Metadata | |
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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 |