Deafness, autosomal dominant 5

Preferred Label : Deafness, autosomal dominant 5;

Symbol : DFNA5;

CISMeF acronym : DFNA5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the DFNA5 gene (608798.0001);

Prefixed ID : #600994;

Details

Origin ID

600994;

UMLS CUI

C1832932;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant non-syndromic sensorineural deafness type DFNA [ORDO Disease]
- gasdermin E [ORDO Gene]
Broader ORDO disease(s)
- Non-syndromic genetic deafness [ORDO Disease]
CISMeF manual mappings
- nonsyndromic sensorineural deafness autosomal dominant 5 [Disease (Nov.)]
Currated CISMeF NLP mapping
- autosomal dominant nonsyndromic deafness 5 [DO Concept]
DO Cross reference
- autosomal dominant nonsyndromic deafness 5 [DO Concept]
Genes related to phenotype
- Gasdermin e [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Progressive 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 5 [DO Concept]
- deafness, autosomal dominant 5 [MeSH Supplementary Concept]
- deafness, autosomal dominant 5 [MeSH concept]
- nonsyndromic sensorineural deafness autosomal dominant 5 [Disease (Nov.)]
Validated automatic mappings to NTBT
- deafness, autosomal dominant 5 [MeSH concept]
- deafness, autosomal dominant 5 [MeSH Supplementary Concept]

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