| Metadata | |
|---|---|
| ID | DOID:0111752 |
| Name | autosomal-mitochondrial sensorineural deafness |
| Definition | A sensorineural hearing loss characterized by progressive, severe to profound deafness that has_material_basis_in digenic inheritance of mutations in the mitochondrial gene MTRNR1 and an unidentified nuclear gene. https://www.ncbi.nlm.nih.gov/pubmed/1613771, https://www.ncbi.nlm.nih.gov/pubmed/8817331 |
| Xrefs | |
| Parent Relationships |
is_a sensorineural hearing loss is_a digenic disease |
| Subclass Logical Relationships |
has material basis in some digenic inheritance |