Deafness, autosomal dominant 2a

Preferred Label : Deafness, autosomal dominant 2a;

Symbol : DFNA2A;

CISMeF acronym : DFNA2A;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the voltage-gated potassium channel, KQT-like subfamily, member 4 gene (KCNQ4, 603537.0001);

Prefixed ID : #600101;

Details

Origin ID

600101;

UMLS CUI

C2677637;

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 2A [DO Concept]
- deafness, autosomal dominant 2A [MeSH concept]
- deafness, autosomal dominant 2A [MeSH Supplementary Concept]
DO Cross reference
- autosomal dominant nonsyndromic deafness 2A [DO Concept]
Genes related to phenotype
- Potassium channel, voltage-gated, kqt-like subfamily, member 4 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Hearing impairment [HPO term]
- Progressive [HPO term]
- Tinnitus [HPO term]
ORDO concept(s)
- Autosomal dominant non-syndromic sensorineural deafness type DFNA [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- autosomal dominant nonsyndromic deafness 2A [DO Concept]
- deafness, autosomal dominant 2A [MeSH Supplementary Concept]
- deafness, autosomal dominant 2A [MeSH concept]

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