- Concept UI
- M0022993
- Scope Note
- 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.
- Terms
-
Wolfram Syndrome
Preferred Term
Term UI
T043608
Date01/01/1999
LexicalTag
EPO
ThesaurusID
-
DIDMOAD
Term UI
T043607
Date03/11/1985
LexicalTag
ABB
ThesaurusID
-
Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness
Term UI
T842713
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)
-
DIDMOAD Syndrome
Term UI
T750433
Date05/04/2009
LexicalTag
ABB
ThesaurusID
-
DIDMOADUD
Term UI
T843884
Date05/09/2013
LexicalTag
NON
ThesaurusID
GHR (2014)
-
Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness
Term UI
T751285
Date05/15/2009
LexicalTag
NON
ThesaurusID