Autosomal Domit Nonsyndromic Deafness 86
Disease ID: disease_node_15118
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| Dbxref | MIM:620280 |
|---|---|
| Subclassof | DOID_0050564 |
| Data Source | DOID |
| Synonyms | DFNA86, autosomal dominant deafness 86 |
| Doid Label | autosomal domit nonsyndromic deafness 86 |
| Doid Description | An autosomal domit nonsyndromic deafness characterized by late-onset progressive hearing loss through p53-mediated hair cell apoptosis that has_material_basis_in heterozygous mutation in the THOC1 gene on chromosome 18p11. Only one family reported as of 2024-09-20. |
| Disease Node Id | disease_node_15118 |
| Doid Id | DOID_0070610 |
| Label | Autosomal Domit Nonsyndromic Deafness 86 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Nonsyndromic Deafness(ID:disease_node_15056) (Disease)