EpilepsyOntology

Last uploaded: November 8, 2021
Preferred Name

genetic etiology

Synonyms

Genetic Defect

ID

https://bio.scai.fraunhofer.de/ontology/epilepsy#genetic_etiology

fromEpSO

fromILAE

true

hasDefinition

The concept of genetic epilepsy is that the epilepsy is, as best we understand, the direct result of a known or presumed genetic defect(s) in which seizures are the core symptom of the disorder. The genetic defect may arise at a chromosomal or molecular level. It is important to emphasize that "genetic" does not mean the same as "inherited" as de novo mutations are not uncommon. Having a genetic etiology does not preclude an environmental contribution to the epilepsy.

label

genetic etiology

oboInOwl:hasRelatedSynonym

Genetic Defect

prefixIRI

epilepsy:genetic_etiology

prefLabel

genetic etiology

see also

http://www.case.edu/EpSO.owl#GeneticDefect

subClassOf

http://purl.obolibrary.org/obo/NCIT_C16390

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