Metadata | |
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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 | |
Synonyms |
autosomal dominant deafness 5 [EXACT] DFNA5 [EXACT] |
Parent Relationships |