Generalized Epilepsy with Febrile Seizures Plus, Type 9

Preferred Label : Generalized Epilepsy with Febrile Seizures Plus, Type 9;

NCIt synonyms : GEFSP9;

NCIt definition : A subtype of generalized epilepsy with febrile seizures plus caused by mutation(s) in the STX1B gene, encoding syntaxin-1B.;

Details

Origin ID

C192201;

UMLS CUI

C4015395;

Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Generalized epilepsy with febrile seizures plus, type 9 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Brain [NCIt concept]
disease_mapped_to_gene
- STX1B Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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