loading...| Preferred Name | Wolfram syndrome | |
| 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 |
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| 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). |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0018105 |
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| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0018105 |
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| 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 |
|
| 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). |
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| 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 |
|
| id |
MONDO:0018105 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
Wolfram syndrome |
|
| notation |
MONDO:0018105 |
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| preferred label |
Wolfram syndrome |
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| prefLabel |
Wolfram syndrome |
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| skos_exactMatch |
http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/151381747 http://purl.obolibrary.org/obo/Orphanet_3463 http://linkedlifedata.com/resource/umls/id/C0043207 http://identifiers.org/mesh/D014929 http://identifiers.org/snomedct/70694009 http://identifiers.org/medgen/21923 |
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| subClassOf |