Deafness, autosomal dominant 27

Preferred Label : Deafness, autosomal dominant 27;

Symbol : DFNA27;

CISMeF acronym : DFNA27;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Prefixed ID : #612431;

Details

Origin ID

612431;

UMLS CUI

C3887929;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant non-syndromic sensorineural deafness type DFNA [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal dominant nonsyndromic deafness 27 [DO Concept]
DO Cross reference
- autosomal dominant nonsyndromic deafness 27 [DO Concept]
Genes related to phenotype
- Re1-silencing transcription factor [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Sensorineural 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 27 [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients