Deafness, autosomal dominant 11

Preferred Label : Deafness, autosomal dominant 11;

Symbol : DFNA11;

CISMeF acronym : DFNA11;

Type : Phenotype, molecular basis known;

Description : Autosomal dominant deafness-11 is a nonsyndromic form of progressive neurosensory hearing loss with postlingual onset. Some affected individuals have mild vestibular symptoms (summary by Sun et al., 2011).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the myosin VIIA gene (MYO7A, 276903.0011);

Prefixed ID : #601317;

Details

Origin ID

601317;

UMLS CUI

C1832475;

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 11 [DO Concept]
- deafness, autosomal dominant 11 [MeSH concept]
- deafness, autosomal dominant 11 [MeSH Supplementary Concept]
DO Cross reference
- autosomal dominant nonsyndromic deafness 11 [DO Concept]
Genes related to phenotype
- Myosin viia [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Bilateral sensorineural hearing impairment [HPO term]
- Vertigo [HPO term]
- Vestibular dysfunction [HPO term]
ORDO concept(s)
- Autosomal dominant non-syndromic sensorineural deafness type DFNA [ORDO Disease]
See also inter- (CISMeF)
- symbol withdrawn DFNA11 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- autosomal dominant nonsyndromic deafness 11 [DO Concept]
- deafness, autosomal dominant 11 [MeSH Supplementary Concept]
- deafness, autosomal dominant 11 [MeSH concept]

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