Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	DEAFNESS, AUTOSOMAL DOMINANT 2B
Synonyms	DFNA2B
ID	http://purl.bioontology.org/ontology/OMIM/612644
altLabel	DFNA2B
cui	C2675236
Gene Locus	1p35.1
Gene Symbol	EKVP1 CX31 GJB3 DFNA2B
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU050402
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	612644
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	DEAFNESS, AUTOSOMAL DOMINANT 2B
Scope Statement	Caused by mutation in the gap junction protein, beta-3 gene (GJB3, 603324.0004) [MOLECULAR BASIS]
tui	T047

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C567214	MESH	CUI
http://identifiers.org/omim/612644	REXO	LOOM
http://identifiers.org/omim/612644	GEXO	LOOM
http://identifiers.org/omim/612644	RETO	LOOM
http://purl.obolibrary.org/obo/OMIM_612644	CCO	LOOM
http://purl.bioontology.org/ontology/MESH/C567214	MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C567214	RH-MESH	LOOM