Term Name: | autosomal dominant nonsyndromic deafness 41 |
---|---|
Synonyms: | autosomal dominant deafness 41, DFNA41 |
Definition: | An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat progressive hearing loss and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the purinergic receptor P2X 2 gene (P2RX2) on chromosome 12q24. |
Ontology: | Human Disease [DOID:0110567] ( DOID:0110567 ) |