Deafness, autosomal dominant 3a

Preferred Label : Deafness, autosomal dominant 3a;

Symbol : DFNA3A;

CISMeF acronym : DFNA3A;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the gap junction protein, beta-2 gene (GJB2, 121011.0011);

Prefixed ID : #601544;

Details

Origin ID

601544;

UMLS CUI

C2675750;

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 3A [DO Concept]
- deafness, autosomal dominant 3A [MeSH concept]
- deafness, autosomal dominant 3A [MeSH Supplementary Concept]
DO Cross reference
- autosomal dominant nonsyndromic deafness 3A [DO Concept]
Genes related to phenotype
- Gap junction protein, beta-2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Sensorineural hearing impairment [HPO term]
ORDO concept(s)
- Autosomal dominant non-syndromic sensorineural deafness type DFNA [ORDO Disease]
See also inter- (CISMeF)
- GJB2 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- autosomal dominant nonsyndromic deafness 3A [DO Concept]
- deafness, autosomal dominant 3A [MeSH Supplementary Concept]
- deafness, autosomal dominant 3A [MeSH concept]

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