Epilepsy, familial focal, with variable foci 2

Preferred Label : Epilepsy, familial focal, with variable foci 2;

Symbol : FFEVF2;

CISMeF acronym : FFEVF2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the NPR2-like protein, GATOR1 complex subunit gene (NPRL2, 607072.0001);

Prefixed ID : #617116;

Details

Origin ID

617116;

UMLS CUI

C4310709;

Automatic exact mappings (from CISMeF team)
- NPRL2 wt Allele [NCIt concept]
Genes related to phenotype
- Npr2-like protein, gator1 complex subunit [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Focal cortical dysplasia [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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