Visualize Submit Comment

Metadata
ID	DOID:0110575
Name	autosomal dominant nonsyndromic deafness 5
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. https://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss, https://www.ncbi.nlm.nih.gov/pubmed/29849037, https://www.omim.org/entry/600994
Xrefs	ICD10CM:H90.3 OMIM:600994
Synonyms	autosomal dominant deafness 5 [EXACT] DFNA5 [EXACT]
Parent Relationships	is_a autosomal dominant nonsyndromic deafness