deafness, autosomal dominant 5

Preferred Label : deafness, autosomal dominant 5;

MeSH note : mutation in DFNA5;

MeSH synonym : DFNA5;

Origin ID

C563410;

UMLS CUI

C1832932;

Automatic exact mappings (from CISMeF team)
- Gasdermin e [OMIM gene]
- autosomal dominant nonsyndromic deafness 5 [DO Concept]
- gasdermin E [ORDO Gene]
Currated CISMeF NLP mapping
- Deafness, autosomal dominant [OMIM phenotypic series]
- autosomal dominant nonsyndromic deafness [DO Concept]
MeSH term(s) associated for indexing
- hearing loss, sensorineural [MeSH Descriptor]
Record concept(s)
- deafness, autosomal dominant 5 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deafness, autosomal dominant 5 [OMIM Phenotype]
- autosomal dominant nonsyndromic deafness 5 [DO Concept]
- nonsyndromic sensorineural deafness autosomal dominant 5 [Disease (Nov.)]
Validated automatic mappings to BTNT
- Deafness, autosomal dominant 5 [OMIM Phenotype]