loading...| Preferred Name |
Wolfram Syndrome [Disease/Finding] |
|
| Synonyms |
DIDMOAD |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000003167 |
|
| altLabel |
DIDMOAD DIDMOAD Syndrome DIDMOADUD Wolfram Syndrome Wolfram Syndrome 1 Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness |
|
| cui |
C0043207 |
|
| MESH DEFINITION |
A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein. |
|
| MESH DUI |
D014929 |
|
| MeSH name |
Wolfram Syndrome |
|
| MESH UI |
M0022993 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000003167 |
|
| NUI |
N0000003167 |
|
| prefLabel |
Wolfram Syndrome [Disease/Finding] |
|
| SNOMED CID |
70694009 |
|
| tui |
T047 |
|
| subClassOf |