Term Name: autosomal dominant nonsyndromic deafness 5
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 )

Relationships
is a type of: autosomal dominant nonsyndromic deafness