Mondo Disease Ontology

Last uploaded: May 9, 2024

Preferred Name	metabolic epilepsy
Synonyms
Definitions	Metabolic epilepsies are conceptualized as having a distinct metabolic abnormality that has been demonstrated to be associated with a substantially increased risk of developing epilepsy in appropriately designed studies. Metabolic disorders have genetic origin; however, the metabolic abnormalities are a separate disorder interposed between the genetic defect and the epilepsy.
ID	http://purl.obolibrary.org/obo/MONDO_0100033
creator	https://orcid.org/0000-0001-5208-3432
date	2018-06-23T18:55:00Z
definition	Metabolic epilepsies are conceptualized as having a distinct metabolic abnormality that has been demonstrated to be associated with a substantially increased risk of developing epilepsy in appropriately designed studies. Metabolic disorders have genetic origin; however, the metabolic abnormalities are a separate disorder interposed between the genetic defect and the epilepsy.
id	MONDO:0100033
in_subset	http://purl.obolibrary.org/obo/mondo#otar
label	metabolic epilepsy
notation	MONDO:0100033
prefLabel	metabolic epilepsy
seeAlso	https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html
treeView	http://purl.obolibrary.org/obo/MONDO_0005027
subClassOf	http://purl.obolibrary.org/obo/MONDO_0005027

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0100033	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0100033	OBA	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0100033	DOVES	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0100033	KTAO	SAME_URI
http://purl.bioontology.org/ontology/MEDDRA/10080074	MEDDRA	LOOM
http://purl.obolibrary.org/obo/MONDO_0100033	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0100033	KTAO	LOOM
http://purl.obolibrary.org/obo/MONDO_0100033	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0100033	OBA	LOOM