Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/612643 http://purl.bioontology.org/ontology/OMIM/612643
Preferred Name	DEAFNESS, AUTOSOMAL DOMINANT 3B
Synonyms	DFNA3B
Type	http://www.w3.org/2002/07/owl#Class

altLabel	DFNA3B
prefLabel	DEAFNESS, AUTOSOMAL DOMINANT 3B
Gene Symbol	CX30 DFNA3B HED2 GJB6 DFNB1B ECTD2 See more See less
Scope Statement	Caused by mutation in the gap junction protein, beta-6 gene (GJB6, 604418.0001) [MOLECULAR BASIS] One Italian family has been described (last curated August 2015) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU050399
tui	T047
Gene Locus	13q12
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	612643
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C2675237
OMIM Entry Type	3
OMIM MimType Value	pound

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