Deafness, autosomal dominant 77

Preferred Label : Deafness, autosomal dominant 77;

Symbol : DFNA77;

CISMeF acronym : DFNA77;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ATP-binding cassette, subfamily C, member 1 gene (ABCC1, 158343.0001);

Prefixed ID : #618915;

Details

Origin ID

618915;

UMLS CUI

C5394499;

Currated CISMeF NLP mapping
- autosomal dominant nonsyndromic deafness 77 [DO Concept]
Genes related to phenotype
- Atp-binding cassette, subfamily C, member 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Sensorineural hearing impairment [HPO term]
Not associated HPO term(s)
- Morphological abnormality of the inner ear [HPO term]
ORDO concept(s)
- Autosomal dominant non-syndromic sensorineural deafness type DFNA [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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