Deafness, autosomal dominant 40

Preferred Label : Deafness, autosomal dominant 40;

Symbol : DFNA40;

CISMeF acronym : DFNA40;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the mu crystallin gene (CRYM, 123740.0001);

Prefixed ID : #616357;

Details

Origin ID

616357;

UMLS CUI

C4084708;

CISMeF manual mappings
- autosomal dominant nonsyndromic deafness 40 [DO Concept]
DO Cross reference
- autosomal dominant nonsyndromic deafness 40 [DO Concept]
Genes related to phenotype
- Crystallin, mu [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Sensorineural hearing impairment [HPO term]
Not associated HPO term(s)
- Vestibular dysfunction [HPO term]
ORDO concept(s)
- Autosomal dominant non-syndromic sensorineural deafness type DFNA [ORDO Disease]
See also inter- (CISMeF)
- crystallin mu [ORDO Gene]
- crystallin mu [HGNC gene]
- deafness, autosomal dominant 40 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- autosomal dominant nonsyndromic deafness 40 [DO Concept]

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