Autosomal Domit Auditory Neuropathy 3
Disease ID: disease_node_15057
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| Dbxref | MIM:619832 |
|---|---|
| Subclassof | DOID_0050564 |
| Data Source | DOID |
| Synonyms | AUNA3 |
| Doid Label | autosomal domit auditory neuropathy 3 |
| Doid Description | An autosomal domit nonsyndromic deafness characterized by progressive hearing loss with inability to discriminate speech but preserved sensitivity to sound, preservation of outer hair cell function and abnormal or absent auditory brainstem responses and that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25.1. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_15057 |
| Doid Id | DOID_0112373 |
| Label | Autosomal Domit Auditory Neuropathy 3 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Nonsyndromic Deafness(ID:disease_node_15056) (Disease)