Deafness, autosomal dominant 20

Preferred Label : Deafness, autosomal dominant 20;

Symbol : DFNA20;

CISMeF acronym : DFNA20; DFNA26;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : DFNA26;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the gamma-1 actin gene (ACTG1, 102560.0001);

Prefixed ID : #604717;

Details

Origin ID

604717;

UMLS CUI

C1858172;

Automatic exact mappings (from CISMeF team)
- ACTG1 wt Allele [NCIt concept]
- 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 20 [DO Concept]
- deafness, autosomal dominant 20 [MeSH concept]
- deafness, autosomal dominant 20 [MeSH Supplementary Concept]
DO Cross reference
- autosomal dominant nonsyndromic deafness 20 [DO Concept]
Genes related to phenotype
- Actin, gamma-1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Bilateral sensorineural hearing impairment [HPO term]
- Progressive bilateral sensorineural hearing loss [HPO term]
- Progressive sensorineural hearing impairment [HPO term]
- Young adult onset [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 20 [DO Concept]
- deafness, autosomal dominant 20 [MeSH Supplementary Concept]
- deafness, autosomal dominant 20 [MeSH concept]

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