Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	DEAFNESS, AUTOSOMAL RECESSIVE 1B
Synonyms	DFNB1B
ID	http://purl.bioontology.org/ontology/OMIM/612645
altLabel	DFNB1B
cui	C2675235
Gene Locus	13q12
Gene Symbol	CX30 DFNA3B HED2 GJB6 DFNB1B ECTD2
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU003302 http://purl.bioontology.org/ontology/OMIM/MTHU033957
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	612645
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	DEAFNESS, AUTOSOMAL RECESSIVE 1B
Scope Statement	Caused by mutation in the gap junction protein, beta-6 gene (GJB6, 604418.0004) [MOLECULAR BASIS] About half of patients with GJB2/GJB6 deafness report vestibular symptoms [MISCELLANEOUS]
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C567213	MESH	CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C567213	RH-MESH	LOOM
http://identifiers.org/omim/612645	REXO	LOOM
http://identifiers.org/omim/612645	GEXO	LOOM
http://identifiers.org/omim/612645	RETO	LOOM
http://purl.bioontology.org/ontology/MESH/C567213	MESH	LOOM
http://purl.obolibrary.org/obo/OMIM_612645	CCO	LOOM