Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

GAP JUNCTION PROTEIN, BETA-6

Synonyms

DEAFNESS, AUTOSOMAL DOMINANT 3B

ID

http://purl.bioontology.org/ontology/OMIM/604418

altLabel

DEAFNESS, AUTOSOMAL DOMINANT 3B

CONNEXIN 30

ECTODERMAL DYSPLASIA, HIDROTIC

ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE

DEAFNESS, DIGENIC, GJB2/GJB6

DEAFNESS, AUTOSOMAL RECESSIVE 1B

CX30

GJB6

cui

C1415081

C2673760

C0162361

C2675235

C2675237

Gene Locus

13q12

Gene Symbol

CX30

DFNA3B

HED2

GJB6

DFNB1B

ECTD2

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/604418.0002

http://purl.bioontology.org/ontology/OMIM/604418.0003

http://purl.bioontology.org/ontology/OMIM/604418.0005

http://purl.bioontology.org/ontology/OMIM/604418.0004

http://purl.bioontology.org/ontology/OMIM/604418.0001

http://purl.bioontology.org/ontology/OMIM/604418.0006

MIMTYPEMEANING

Gene with known sequence

notation

604418

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

GAP JUNCTION PROTEIN, BETA-6

tui

T047

T028

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