Deafness, autosomal dominant 15

Preferred Label : Deafness, autosomal dominant 15;

Symbol : DFNA15;

CISMeF acronym : DFNA15;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Deafness, autosomal dominant 52; DFNA52;

Description : Autosomal dominant deafness-15 is a form of progressive nonsyndromic sensorineural hearing loss with postlingual onset between the second and sixth decades of life (summary by Kim et al., 2013).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the class 4 POU domain transcription factor 3 gene (POU4F3, 602460.0001);

Prefixed ID : #602459;

Details

Origin ID

602459;

UMLS CUI

C1865366;

Automatic exact mappings (from CISMeF team)
- 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 15 [DO Concept]
- deafness, autosomal dominant 15 [MeSH concept]
- deafness, autosomal dominant 15 [MeSH Supplementary Concept]
DO Cross reference
- autosomal dominant nonsyndromic deafness 15 [DO Concept]
Genes related to phenotype
- Pou domain, class 4, transcription factor 3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hearing impairment [HPO term]
ORDO concept(s)
- Autosomal dominant non-syndromic sensorineural deafness type DFNA [ORDO Disease]
See also inter- (CISMeF)
- symbol withdrawn DFNA15 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- autosomal dominant nonsyndromic deafness 15 [DO Concept]
- deafness, autosomal dominant 15 [MeSH Supplementary Concept]
- deafness, autosomal dominant 15 [MeSH concept]

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