Deafness, autosomal dominant 23

Preferred Label : Deafness, autosomal dominant 23;

Symbol : DFNA23;

CISMeF acronym : DFNA23;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SIX homeobox 1 gene (SIX1, 601205.0003);

Prefixed ID : #605192;

Détails

Origin ID

605192;

UMLS CUI

C1854594;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant non-syndromic sensorineural deafness type DFNA [ORDO Disease]
- SIX1 wt Allele [NCIt concept]
Broader ORDO disease(s)
- Non-syndromic genetic deafness [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal dominant nonsyndromic deafness 23 [DO Concept]
- deafness, autosomal dominant 23 [MeSH concept]
- deafness, autosomal dominant 23 [MeSH Supplementary Concept]
DO Cross reference
- autosomal dominant nonsyndromic deafness 23 [DO Concept]
Genes related to phenotype
- Six homeobox 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Conductive hearing impairment [HPO term]
- Preauricular pit [HPO term]
- Sensorineural hearing impairment [HPO term]
- Vesicoureteral reflux [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 23 [DO Concept]
- deafness, autosomal dominant 23 [MeSH Supplementary Concept]
- deafness, autosomal dominant 23 [MeSH concept]

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