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EpilepsyOntology
Last uploaded:
November 8, 2021
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| Preferred Name | genetic etiology | |
| Synonyms |
Genetic Defect |
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https://bio.scai.fraunhofer.de/ontology/epilepsy#genetic_etiology |
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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.
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| label |
genetic etiology
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Genetic Defect
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epilepsy:genetic_etiology
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genetic etiology
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| Mapping To | Ontology | Source |
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| http://www.semanticweb.org/zchero/ontologies/2023/11/SepsisOntology#Genetic_Etiology | SEPON | LOOM |