Autosomal Domit Auditory Neuropathy 1
Disease ID: disease_node_15132
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| Dbxref | ICD10CM:H90.3, MIM:609129 |
|---|---|
| Subclassof | DOID_0050564 |
| Data Source | DOID |
| Synonyms | AUNA1, NSDAN, nonsyndromic dominant auditory neuropathy |
| Doid Label | autosomal domit auditory neuropathy 1 |
| Doid Description | An autosomal domit nonsyndromic deafness characterized by preservation of outer hair cell function and abnormal or absent auditory brainstem responses that has_material_basis_in heterozygous mutation in the DIAPH3 gene on chromosome 13q. |
| Disease Node Id | disease_node_15132 |
| Doid Id | DOID_0060690 |
| Label | Autosomal Domit Auditory Neuropathy 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Nonsyndromic Deafness(ID:disease_node_15056) (Disease)