Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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

DFNB1B

CX30

DFNA3B

HED2

ECTD2

GJB6

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU033958

http://purl.bioontology.org/ontology/OMIM/MTHU033957

http://purl.bioontology.org/ontology/OMIM/MTHU033959

http://purl.bioontology.org/ontology/OMIM/MTHU033960

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

612645

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

DEAFNESS, AUTOSOMAL RECESSIVE 1B

tui

T047

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http://purl.bioontology.org/ontology/MESH/C567213 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C567213 Medical Subject Headings LOOM