Link to this page
Hearing Impairment Ontology
Last uploaded:
October 31, 2019
Jump to:
| Id | http://purl.obolibrary.org/obo/HIO_0000027
http://purl.obolibrary.org/obo/HIO_0000027
|
|---|---|
| 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).
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| prefLabel |
Wolfram Syndrome
|
|---|---|
| label |
Wolfram Syndrome
|
| description |
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).
|
| has mode of inheritance | |
| creation_date |
2019-05-24T12:08:57.432291Z
|
| created_by |
Jade Hotchkiss
|
| existence in other ontologies |
Sufficient
|
| prefixIRI |
HIO:0000027
|
| database cross reference |
ORPHA:3463
|
| subClassOf | |
| definition source | |
| hasExactSynonym |
Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Deafness Syndrome
DIDMOAD Syndrome
Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness
DIDMOAD
WS
|
| type |
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |