Metadata | |
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ID | DOID:0070602 |
Name | autosomal dominant nonsyndromic deafness 80 |
Definition | An autosomal dominant nonsyndromic deafness characterized by congenital deafness associated with absent or malformed cochleae and eighth cranial nerves that has_material_basis_in heterozygous mutation in the GREB1L gene on chromosome 18q11. https://pubmed.ncbi.nlm.nih.gov/29955957/, https://pubmed.ncbi.nlm.nih.gov/32585897/ |
Xrefs | |
SKOS |
exactMatch MIM:619274 |
Synonyms |
autosomal dominant deafness 80 [EXACT] DFNA80 [EXACT] |
Parent Relationships |