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Wolfram syndrome - Ontology Report - Rat Genome Database

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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS


Term:Wolfram syndrome
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Accession:EFO:MONDO:0018105 term browser browse the term
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).
Synonyms:exact_synonym: DIDMOAD;   DIDMOAD syndrome;   DOID:10632;   NCIT:C35133;   Orphanet:3463;   WFS;   diabetes insipidus, diabetes mellitus, optic atrophy, and deafness syndrome;   diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome;   diabetes mellitus and insipidus with optic atrophy and deafness;   http://identifiers.org/medgen/21923;   http://identifiers.org/mesh/D014929;   http://identifiers.org/snomedct/70694009;   http://linkedlifedata.com/resource/umls/id/C0043207;   http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/151381747
 alt_id: MONDO:0018105
 xref: DOID:10632;   GARD:7898;   ICD9:250.80;   MEDGEN:21923;   MESH:D014929;   NANDO:1200757;   NCI:C35133;   ORDO:3463;   SCTID:70694009;   UMLS:C0043207;   icd11.foundation:151381747


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