autosomal dominant nonsyndromic deafness 5

Term ID

DOID:0110575

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. (3)

References

• ICD10CM:H90.3
• MIM:600994

Ontology

Human Disease   ( DOID:0110575 )