Deafness, autosomal dominant 6

Preferred Label : Deafness, autosomal dominant 6;

Symbol : DFNA6;

CISMeF acronym : DFNA14; DFNA38; DFNA6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : DFNA14; DFNA38; Deafness, autosomal dominant 38; Deafness, autosomal dominant 14;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the WFS1 gene (606201);

Prefixed ID : #600965;

Details

Origin ID

600965;

UMLS CUI

C1833021;

Broader ORDO disease(s)
- Non-syndromic genetic deafness [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal dominant nonsyndromic deafness 6 [DO Concept]
- deafness, autosomal dominant 6 [MeSH concept]
- deafness, autosomal dominant 6 [MeSH Supplementary Concept]
DO Cross reference
- autosomal dominant nonsyndromic deafness 6 [DO Concept]
Genes related to phenotype
- Wolframin er transmembrane glycoprotein [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Juvenile onset [HPO term]
- Low-frequency sensorineural hearing impairment [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 6 [DO Concept]
- deafness, autosomal dominant 6 [MeSH Supplementary Concept]
- deafness, autosomal dominant 6 [MeSH concept]

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