Deafness, autosomal dominant 2b

Preferred Label : Deafness, autosomal dominant 2b;

Symbol : DFNA2B;

CISMeF acronym : DFNA2B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Deafness, autosomal dominant, with or without peripheral neuropathy;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the gap junction protein, beta-3 gene (GJB3, 603324.0004);

Prefixed ID : #612644;

Details

Origin ID

612644;

UMLS CUI

C2675236;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant non-syndromic sensorineural deafness type DFNA [ORDO Disease]
Broader ORDO disease(s)
- Non-syndromic genetic deafness [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal dominant nonsyndromic deafness 2B [DO Concept]
- deafness, autosomal dominant 2B [MeSH concept]
- deafness, autosomal dominant 2B [MeSH Supplementary Concept]
DO Cross reference
- autosomal dominant nonsyndromic deafness 2B [DO Concept]
Genes related to phenotype
- Gap junction protein, beta-3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- High-frequency hearing impairment [HPO term]
ORDO concept(s)
- Autosomal dominant non-syndromic sensorineural deafness type DFNA [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- autosomal dominant nonsyndromic deafness 2B [DO Concept]
- deafness, autosomal dominant 2B [MeSH Supplementary Concept]
- deafness, autosomal dominant 2B [MeSH concept]

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