| Metadata | |
|---|---|
| ID | DOID:0110575 |
| PURL | http://purl.obolibrary.org/obo/DOID_0110575 Copy |
| 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 |