Deafness, autosomal dominant 22

Preferred Label : Deafness, autosomal dominant 22;

Symbol : DFNA22;

CISMeF acronym : DFNA22;

Type : Phenotype, molecular basis known;

Included titles and symbols : Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the myosin VI gene (MYO6, 600970.0001);

Prefixed ID : #606346;

Details

Origin ID

606346;

UMLS CUI

C2931767;

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
- Deafness, autosomal dominant nonsyndromic sensorineural 22 [MeSH concept]
- Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome [ORDO Disease]
- autosomal dominant nonsyndromic deafness 22 [DO Concept]
- deafness, autosomal dominant nonsyndromic sensorineural 22 [MeSH Supplementary Concept]
DO Cross reference
- autosomal dominant nonsyndromic deafness 22 [DO Concept]
Genes related to phenotype
- Myosin VI [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Progressive sensorineural hearing impairment [HPO term]
- Sensorineural hearing impairment [HPO term]
ORDO concept(s)
- Autosomal dominant non-syndromic sensorineural deafness type DFNA [ORDO Disease]
- Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deafness, autosomal dominant nonsyndromic sensorineural 22 [MeSH concept]
- autosomal dominant nonsyndromic deafness 22 [DO Concept]
- deafness, autosomal dominant nonsyndromic sensorineural 22 [MeSH Supplementary Concept]

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