Experimental Factor Ontology

Last uploaded: November 18, 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

database_cross_reference

UMLS:C4524099

MEDGEN:1843497

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.

exactMatch

http://identifiers.org/medgen/1843497

http://linkedlifedata.com/resource/umls/id/C4524099

id

MONDO:0100033

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

label

metabolic epilepsy

notation

MONDO:0100033

preferred label

metabolic epilepsy

prefLabel

metabolic epilepsy

see also

https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html

subClassOf

http://www.ebi.ac.uk/efo/EFO_0000474

Delete Subject Author Type Created
No notes to display