Term Name: | autosomal dominant nonsyndromic deafness 80 |
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Synonyms: | autosomal dominant deafness 80, DFNA80 |
Definition: | An autosomal dominant nonsyndromic deafness characterized by congenital deafness associated with absent or malformed cochleae and eighth cranial nerves that has_material_basis_in heterozygous mutation in the GREB1L gene on chromosome 18q11. |
Ontology: | Human Disease [DOID:0070602] ( DOID:0070602 ) |