Deafness, autosomal dominant 68

Preferred Label : Deafness, autosomal dominant 68;

Symbol : DFNA68;

CISMeF acronym : DFNA68;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the homer scaffold protein 1 gene (HOMER2, 604799.0001);

Prefixed ID : #616707;

Details

Origin ID

616707;

UMLS CUI

C4225240;

CISMeF manual mappings
- autosomal dominant nonsyndromic deafness 68 [DO Concept]
DO Cross reference
- autosomal dominant nonsyndromic deafness 68 [DO Concept]
Genes related to phenotype
- Homer scaffold protein 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Sensorineural hearing impairment [HPO term]
ORDO concept(s)
- Autosomal dominant non-syndromic sensorineural deafness type DFNA [ORDO Disease]
See also inter- (CISMeF)
- homer scaffold protein 2 [ORDO Gene]
- homer scaffold protein 2 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- autosomal dominant nonsyndromic deafness 68 [DO Concept]

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