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Metadata
ID	DOID:0070602
PURL	http://purl.obolibrary.org/obo/DOID_0070602 Copy Copied!
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	MIM:619274
SKOS	exactMatch MIM:619274
Synonyms	autosomal dominant deafness 80 [EXACT] DFNA80 [EXACT]
Parent Relationships	is_a autosomal dominant nonsyndromic deafness