Term Name: | autosomal dominant nonsyndromic deafness 5 |
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Synonyms: | autosomal dominant deafness 5, DFNA5 |
Definition: | An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life and high frequency progressive hearing loss, and has_material_basis_in heterozygous mutation in the gasdermin E (GSDME) gene on chromosome 7p15. |
Ontology: | Human Disease [DOID:0110575] ( DOID:0110575 ) |