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Metadata
ID	DOID:0070606
PURL	http://purl.obolibrary.org/obo/DOID_0070606 Copy Copied!
Name	autosomal dominant nonsyndromic deafness 87
Definition	An autosomal dominant nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss with inner ear anomalies, including cochlear maldevelopment, absence of the osseous spiral lamina, and/or an enlarged vestibular aqueduct that has_material_basis_in heterozygous mutation in the PI4KB gene on chromosome 1q21. https://pubmed.ncbi.nlm.nih.gov/33358777/
Xrefs	MIM:620281
SKOS	exactMatch MIM:620281
Synonyms	autosomal dominant deafness 87 [EXACT] DFNA87 [EXACT]
Parent Relationships	is_a autosomal dominant nonsyndromic deafness