Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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

DFNA2B

CX31

GJB3

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU050402

http://purl.bioontology.org/ontology/OMIM/MTHU050403

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

612644

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

DEAFNESS, AUTOSOMAL DOMINANT 2B

tui

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C567214 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C567214 Medical Subject Headings LOOM