Epilepsy, childhood absence, susceptibility to, 5

Preferred Label : Epilepsy, childhood absence, susceptibility to, 5;

Symbol : ECA5;

CISMeF acronym : ECA5;

Type : Phenotype, molecular basis known;

Prefixed ID : #612269;

Details

Origin ID

612269;

UMLS CUI

C2677087;

Genes related to phenotype
- Gamma-aminobutyric acid receptor, beta-3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Generalized non-motor (absence) seizure [HPO term]
- Incomplete penetrance [HPO term]
ORDO concept(s)
- Childhood absence epilepsy [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]
Validated automatic mappings to NTBT
- Childhood absence epilepsy [ORDO Disease]

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