1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0112373 | autosomal dominant auditory neuropathy 3 | An autosomal dominant 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. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0050563 | nonsyndromic deafness | An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms. |
