Epilepsy, familial focal, with variable foci 1

Preferred Label : Epilepsy, familial focal, with variable foci 1;

Symbol : FFEVF1;

CISMeF acronym : FFEVF; FFEVF1; FPEVF;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : FFEVF; Epilepsy, familial focal, with variable foci; FPEVF; Epilepsy, partial, with variable foci;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the DEP domain-containing protein 5 gene (DEPDC, 614191.0001);

Prefixed ID : #604364;

Details

Origin ID

604364;

UMLS CUI

C4551983;

Automatic exact mappings (from CISMeF team)
- DEPDC5 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Familial Focal Epilepsy with Variable Foci 1 [NCIt concept]
- Familial focal epilepsy with variable foci [ORDO Disease]
- epilepsy, partial, with variable foci [MeSH concept]
- epilepsy, partial, with variable foci [MeSH Supplementary Concept]
Genes related to phenotype
- Dep domain-containing protein 5 [OMIM gene]
HPO term(s)
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Focal cortical dysplasia [HPO term]
- Focal cortical dysplasia type I [HPO term]
- Focal cortical dysplasia type II [HPO term]
- Focal cortical dysplasia type IIa [HPO term]
- Hemimegalencephaly [HPO term]
- Incomplete penetrance [HPO term]
- Intellectual disability [HPO term]
- Nocturnal seizures [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]
UMLS correspondences (same concept)
- Familial Focal Epilepsy with Variable Foci 1 [NCIt concept]
- Familial focal epilepsy with variable foci [ORDO Disease]
- epilepsy, partial, with variable foci [MeSH Supplementary Concept]
- epilepsy, partial, with variable foci [MeSH concept]
Validated automatic mappings to NTBT
- Familial focal epilepsy with variable foci [ICD-11 More detail]
- Familial focal epilepsy with variable foci (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients