Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/601544 http://purl.bioontology.org/ontology/OMIM/601544
Preferred Name	DEAFNESS, AUTOSOMAL DOMINANT 3A
Synonyms	DFNA3A
Type	http://www.w3.org/2002/07/owl#Class

altLabel	DFNA3A
prefLabel	DEAFNESS, AUTOSOMAL DOMINANT 3A
Gene Symbol	GJB2 BAPS PPK DFNA3A CX26 HID KID DFNB1A See more See less
Scope Statement	Caused by mutation in the gap junction protein, beta-2 gene (GJB2, 121011.0011) [MOLECULAR BASIS] Onset in late childhood [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000530
tui	T047
Gene Locus	13q11-q12
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	601544
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C2675750
OMIM Entry Type	3
OMIM MimType Value	pound

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