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Metadata
ID	DOID:0112159
PURL	http://purl.obolibrary.org/obo/DOID_0112159 Copy Copied!
Name	autosomal dominant nonsyndromic deafness 78
Definition	An autosomal dominant nonsyndromic deafness characterized by congenital onset of profound bilateral sensorineural hearing loss affecting all frequencies that has_material_basis_in heterozygous mutation in the carboxy-terminal domain of the SLC12A2 gene on chromosome 5q23.3. https://pubmed.ncbi.nlm.nih.gov/32294086/
Xrefs	MIM:619081
Synonyms	DFNA78 [EXACT]
Parent Relationships	is_a autosomal dominant nonsyndromic deafness