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Disease association ontology term - MONDO:0100033 - metabolic epilepsy

Term summary

ID
MONDO:0100033
Name
metabolic epilepsy
Ontology or CV name
Disease association
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.

Parents

Annotation

Disease association

MONDO:0015005 - epilepsy, early-onset, vitamin B6-dependent

References:

Genes:

MONDO:0012407 - pyridoxal phosphate-responsive seizures

References:

Genes: