Generalized epilepsy with febrile seizures plus, type 4

Preferred Label : Generalized epilepsy with febrile seizures plus, type 4;

Symbol : GEFSP4;

CISMeF acronym : GEFSP4; GEFS 4;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : GEFS 4; Gefs , type 4;

Description : For a general phenotypic description and a discussion of genetic heterogeneity of generalized epilepsy with febrile seizures plus (GEFS ), see 604233.;

Inheritance : Autosomal dominant;

Prefixed ID : %609800;

Details

Origin ID

609800;

UMLS CUI

C1853345;

Automatic exact mappings (from CISMeF team)
- generalized epilepsy with febrile seizures plus 4 [DO Concept]
Broader ORDO disease(s)
- Generalized epilepsy with febrile seizures-plus [ORDO Disease]
Currated CISMeF NLP mapping
- generalized epilepsy with febrile seizures plus, type 4 [MeSH concept]
- generalized epilepsy with febrile seizures plus, type 4 [MeSH Supplementary Concept]
DO Cross reference
- generalized epilepsy with febrile seizures plus 4 [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Febrile seizure (within the age range of 3 months to 6 years) [HPO term]
- Heterogeneous [HPO term]
- Seizures usually last less than 15 minutes [HPO term]
- Seizures, generalized, associated with fever [HPO term]
ORDO concept(s)
- Generalized epilepsy with febrile seizures-plus [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- generalized epilepsy with febrile seizures plus, type 4 [MeSH Supplementary Concept]
- generalized epilepsy with febrile seizures plus, type 4 [MeSH concept]
Validated automatic mappings to NTBT
- Generalized epilepsy with febrile seizures-plus [ORDO Disease]

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