JSON

Wolfram syndrome

^ http://purl.obolibrary.org/obo/MONDO_0018105


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). [ Orphanet:3463 ]

Term info

database cross reference
  • Orphanet:3463 (MONDO:equivalentTo)
  • UMLS:CN184630 (MONDO:equivalentTo)
  • UMLS:C0043207 (Orphanet:3463/e)
  • ICD9:250.80 (MONDO:relatedTo)
  • GARD:0007898 (MONDO:equivalentTo)
  • MESH:D014929 (Orphanet:3463/e)
  • SCTID:70694009 (MONDO:equivalentTo)
  • DOID:10632 (MONDO:equivalentTo)
  • NCIT:C35133 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
WFS [ DOID:10632 ]

abbreviation
DIDMOAD [ DOID:10632 ]

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).

exactMatch

http://linkedlifedata.com/resource/umls/id/CN184630, http://linkedlifedata.com/resource/umls/id/C0043207, http://identifiers.org/mesh/D014929, http://purl.obolibrary.org/obo/DOID_10632, http://purl.obolibrary.org/obo/NCIT_C35133, http://purl.obolibrary.org/obo/Orphanet_3463, http://identifiers.org/snomedct/70694009

has exact synonym

diabetes mellitus and insipidus with optic atrophy and deafness, Wolfram syndrome, diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome, WFS, DIDMOAD syndrome, diabetes insipidus, diabetes mellitus, optic atrophy, and deafness syndrome, DIDMOAD

id

MONDO:0018105