Deafness, autosomal dominant 70

Preferred Label : Deafness, autosomal dominant 70;

Symbol : DFNA70;

CISMeF acronym : DFNA70;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the minichromosome maintenance complex component 2 gene (MCM2, 116945.0001);

Prefixed ID : #616968;

Details

Origin ID

616968;

UMLS CUI

C4310775;

CISMeF manual mappings
- autosomal dominant nonsyndromic deafness 70 [DO Concept]
DO Cross reference
- autosomal dominant nonsyndromic deafness 70 [DO Concept]
Genes related to phenotype
- Minichromosome maintenance complex component 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Progressive sensorineural hearing impairment [HPO term]
- Slowly progressive [HPO term]
- Variable expressivity [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)
- minichromosome maintenance complex component 2 [ORDO Gene]
- minichromosome maintenance complex component 2 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- autosomal dominant nonsyndromic deafness 70 [DO Concept]

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