Autosomal Domit Nonsyndromic Deafness 78
Disease ID: disease_node_15063
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| Dbxref | MIM:619081 |
|---|---|
| Subclassof | DOID_0050564 |
| Data Source | DOID |
| Synonyms | DFNA78 |
| Doid Label | autosomal domit nonsyndromic deafness 78 |
| Doid Description | An autosomal domit nonsyndromic deafness characterized by congenital onset of profound bilateral sensorineural hearing loss affecting all frequencies that has_material_basis_in heterozygous mutation in the carboxy-terminal domain of the SLC12A2 gene on chromosome 5q23.3. |
| Disease Node Id | disease_node_15063 |
| Doid Id | DOID_0112159 |
| Label | Autosomal Domit Nonsyndromic Deafness 78 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Nonsyndromic Deafness(ID:disease_node_15056) (Disease)