Deafness, autosomal dominant 76

Preferred Label : Deafness, autosomal dominant 76;

Symbol : DFNA76;

CISMeF acronym : DFNA76;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the plastin-1 gene (PLS1, 602734.0001);

Prefixed ID : #618787;

Détails

Origin ID

618787;

UMLS CUI

C5394080;

Currated CISMeF NLP mapping
- autosomal dominant nonsyndromic deafness 76 [DO Concept]
Genes related to phenotype
- Plastin 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Sensorineural hearing impairment [HPO term]
Not associated HPO term(s)
- Vestibular dysfunction [HPO term]
ORDO concept(s)
- Autosomal dominant non-syndromic sensorineural deafness type DFNA [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients