Metadata | |
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ID | DOID:0080584 |
Name | autosomal dominant Wolfram syndrome |
Definition | A Wolfram syndrome that is characterized by congenital progressive hearing impairment, diabetes mellitus, and optic atrophy and that has_material_basis_in autosomal dominant inheritance of a heterozygous mutation in the WFS1 gene on chromosome 4p16. https://www.ncbi.nlm.nih.gov/pubmed/18544103 |
Xrefs | |
Parent Relationships |
is_a Wolfram syndrome |