Online Mendelian Inheritance in Man - GAP JUNCTION PROTEIN, BETA-3 - Classes

Preferred Name	GAP JUNCTION PROTEIN, BETA-3
Synonyms	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
ID	http://purl.bioontology.org/ontology/OMIM/603324
altLabel	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 GAP JUNCTION PROTEIN, 31-KD DEAFNESS, AUTOSOMAL DOMINANT 2B CONNEXIN 31 CX31 DEAFNESS, AUTOSOMAL RECESSIVE DEAFNESS, AUTOSOMAL DOMINANT, WITH PERIPHERAL NEUROPATHY GJB3 DEAFNESS, DIGENIC, GJB2/GJB3
cui	C0265961 C3148751 C1415078 C2675236 C1846647 C2673761
Gene Locus	1p35.1
Gene Symbol	EKVP1 DFNA2B CX31 GJB3
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/603324.0002 http://purl.bioontology.org/ontology/OMIM/603324.0009 http://purl.bioontology.org/ontology/OMIM/603324.0007 http://purl.bioontology.org/ontology/OMIM/603324.0003 http://purl.bioontology.org/ontology/OMIM/603324.0008 http://purl.bioontology.org/ontology/OMIM/603324.0010 http://purl.bioontology.org/ontology/OMIM/603324.0011 http://purl.bioontology.org/ontology/OMIM/603324.0005 http://purl.bioontology.org/ontology/OMIM/603324.0012 http://purl.bioontology.org/ontology/OMIM/603324.0006 http://purl.bioontology.org/ontology/OMIM/603324.0004 http://purl.bioontology.org/ontology/OMIM/603324.0001
MIMTYPEMEANING	Gene with known sequence and phenotype
notation	603324
OMIM Entry Type	4
OMIM MimType Value	plus
prefLabel	GAP JUNCTION PROTEIN, BETA-3
tui	T028 T047

Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C567134	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/C567214	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/D056266	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/C564609	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/LNC/LP149237-2	Logical Observation Identifier Names and Codes	CUI