Generalized epilepsy with febrile seizures plus, type 9

Preferred Label : Generalized epilepsy with febrile seizures plus, type 9;

Symbol : GEFSP9;

CISMeF acronym : GEFSP9; GEFS 9;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Gefs , type 9; GEFS 9;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the syntaxin 1B gene (STX1B, 601485.0001);

Prefixed ID : #616172;

Details

Origin ID

616172;

UMLS CUI

C4015395;

Automatic exact mappings (from CISMeF team)
- generalized epilepsy with febrile seizures plus 9 [DO Concept]
DO Cross reference
- generalized epilepsy with febrile seizures plus 9 [DO Concept]
Genes related to phenotype
- Syntaxin 1b [OMIM gene]
HPO term(s)
- Atonic seizure [HPO term]
- 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]
- Focal impaired awareness seizure [HPO term]
- Generalized non-motor (absence) seizure [HPO term]
- Global developmental delay [HPO term]
- Variable expressivity [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 9 [NCIt concept]
Validated automatic mappings to NTBT
- Generalized epilepsy with febrile seizures-plus [ORDO Disease]

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