Epilepsy, familial focal, with variable foci 3

Preferred Label : Epilepsy, familial focal, with variable foci 3;

Symbol : FFEVF3;

CISMeF acronym : FFEVF3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the nitrogen permease-regulator-like 3 gene (NPRL3, 600928.0001);

Prefixed ID : #617118;

Details

Origin ID

617118;

UMLS CUI

C4310708;

Genes related to phenotype
- Nitrogen permease regulator-like 3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Focal cortical dysplasia [HPO term]
- Focal cortical dysplasia type IIa [HPO term]
- Incomplete penetrance [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Familial focal epilepsy with variable foci [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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