| Metadata | |
|---|---|
| ID | DOID:0110630 |
| Name | Wolfram syndrome 2 |
| Definition | An autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CISD2 gene on chromosome 4q24. https://www.ncbi.nlm.nih.gov/pubmed/25056293 |
| Xrefs | |
| Synonyms |
WFS2 [EXACT] |
| Parent Relationships |
is_a Wolfram syndrome |
| Subclass Logical Relationships |
has symptom some bleeding has material basis in some autosomal recessive inheritance |