Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	DEAFNESS, AUTOSOMAL DOMINANT 3A
Synonyms	DFNA3A
ID	http://purl.bioontology.org/ontology/OMIM/601544
altLabel	DFNA3A
cui	C2675750
Gene Locus	13q11-q12
Gene Symbol	GJB2 BAPS PPK DFNA3A CX26 HID KID DFNB1A
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000530
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	601544
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	DEAFNESS, AUTOSOMAL DOMINANT 3A
Scope Statement	Caused by mutation in the gap junction protein, beta-2 gene (GJB2, 121011.0011) [MOLECULAR BASIS] Onset in late childhood [MISCELLANEOUS]
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C567277	MESH	CUI
http://identifiers.org/omim/601544	REXO	LOOM
http://identifiers.org/omim/601544	GEXO	LOOM
http://identifiers.org/omim/601544	RETO	LOOM
http://purl.bioontology.org/ontology/MESH/C567277	MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C567277	RH-MESH	LOOM
http://purl.obolibrary.org/obo/OMIM_601544	CCO	LOOM