| Metadata | |
|---|---|
| ID | DOID:0110629 |
| Name | Wolfram syndrome 1 |
| Definition | An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the WFS1 gene on chromosome 4p16.1. https://www.ncbi.nlm.nih.gov/pubmed/21538838 |
| Xrefs | |
| Synonyms |
diabetes mellitus AND insipidus with optic atrophy AND deafness [EXACT] DIDMOAD [EXACT] WFS1 [EXACT] |
| Parent Relationships |
is_a Wolfram syndrome |