Autosomal Domit Nonsyndromic Deafness 87
Disease ID: disease_node_15122
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| Dbxref | MIM:620281 |
|---|---|
| Subclassof | DOID_0050564 |
| Data Source | DOID |
| Synonyms | DFNA87, autosomal dominant deafness 87 |
| Doid Label | autosomal domit nonsyndromic deafness 87 |
| Doid Description | An autosomal domit nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss with inner ear anomalies, including cochlear maldevelopment, absence of the osseous spiral lamina, and/or an enlarged vestibular aqueduct that has_material_basis_in heterozygous mutation in the PI4KB gene on chromosome 1q21. |
| Disease Node Id | disease_node_15122 |
| Doid Id | DOID_0070606 |
| Label | Autosomal Domit Nonsyndromic Deafness 87 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Nonsyndromic Deafness(ID:disease_node_15056) (Disease)