Susceptibility to Idiopathic Generalized Epilepsy-15

Preferred Label : Susceptibility to Idiopathic Generalized Epilepsy-15;

NCIt synonyms : EIG15;

NCIt definition : An autosomal dominant susceptibility to idiopathic generalized epilepsy-15, caused by mutation(s) in the RORB gene, encoding nuclear receptor ROR-beta. The condition is characterized by early-onset generalized seizures and may have associated developmental delay.;

NCI Metathesaurus CUI : CL1371071;

Details

Origin ID

C179067;

UMLS CUI

C5193050;

Automatic exact mappings (from CISMeF team)
- Epilepsy, idiopathic generalized, susceptibility to, 15 [OMIM Phenotype]
- idiopathic generalized epilepsy 15 [DO Concept]
Semantic type(s)
- Finding [UMLS semantic type]
UMLS correspondences (same concept)
- Epilepsy, idiopathic generalized, susceptibility to, 15 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- RORB Gene [NCIt concept]
related_to_genetic_biomarker
- RORB Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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