Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	DEAFNESS, AUTOSOMAL DOMINANT 3B
Synonyms	DFNA3B
ID	http://purl.bioontology.org/ontology/OMIM/612643
altLabel	DFNA3B
cui	C2675237
Gene Locus	13q12
Gene Symbol	CX30 DFNA3B HED2 GJB6 DFNB1B ECTD2
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU050399
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	612643
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	DEAFNESS, AUTOSOMAL DOMINANT 3B
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]
tui	T047

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C567215	MESH	CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C567215	RH-MESH	LOOM
http://identifiers.org/omim/612643	REXO	LOOM
http://identifiers.org/omim/612643	GEXO	LOOM
http://identifiers.org/omim/612643	RETO	LOOM
http://purl.bioontology.org/ontology/MESH/C567215	MESH	LOOM
http://purl.obolibrary.org/obo/OMIM_612643	CCO	LOOM