Experimental Factor Ontology - Wolfram syndrome - Classes | NCBO BioPortal

Experimental Factor Ontology

Last uploaded: January 16, 2025

Id	http://purl.obolibrary.org/obo/MONDO_0018105 http://purl.obolibrary.org/obo/MONDO_0018105
Preferred Name	Wolfram syndrome
Definitions	Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2).
Synonyms	Wolfram syndrome diabetes mellitus and insipidus with optic atrophy and deafness DIDMOAD syndrome diabetes insipidus, diabetes mellitus, optic atrophy, and deafness syndrome diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome DIDMOAD WFS
Type	http://www.w3.org/2002/07/owl#Class

definition	Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2).
preferred label	Wolfram syndrome
label	Wolfram syndrome
prefLabel	Wolfram syndrome
exactMatch	http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/151381747 http://linkedlifedata.com/resource/umls/id/C0043207 http://identifiers.org/mesh/D014929 http://identifiers.org/snomedct/70694009 http://www.orpha.net/ORDO/Orphanet_3463 http://identifiers.org/medgen/21923 http://purl.obolibrary.org/obo/DOID_10632 http://purl.obolibrary.org/obo/NCIT_C35133 See more See less
database_cross_reference	NCIT:C35133 ICD9:250.80 SCTID:70694009 UMLS:C0043207 Orphanet:3463 icd11.foundation:151381747 MEDGEN:21923 MESH:D014929 NANDO:1200757 DOID:10632 GARD:7898 See more See less
notation	MONDO:0018105
in_subset	http://purl.obolibrary.org/obo/mondo#ordo_disorder http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#clingen http://purl.obolibrary.org/obo/mondo#gard_rare See more See less
id	MONDO:0018105
subClassOf	http://purl.obolibrary.org/obo/MONDO_0002254
type	http://www.w3.org/2002/07/owl#Class
has_exact_synonym	Wolfram syndrome diabetes mellitus and insipidus with optic atrophy and deafness DIDMOAD syndrome diabetes insipidus, diabetes mellitus, optic atrophy, and deafness syndrome diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome DIDMOAD WFS See more See less
curated_content_resource	https://search.clinicalgenome.org/kb/conditions/MONDO:0018105

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