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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

MIM:600994

Synonyms

autosomal dominant deafness 5 [EXACT]

DFNA5 [EXACT]

Parent Relationships

is_a autosomal dominant nonsyndromic deafness

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