{"orpha":225696,"name":"Energy metabolism disorder with epilepsy","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-225696/","orphanet_url":"https://www.orpha.net/en/disease/detail/225696","names":{"fr":{"name":"Anomalie du métabolisme energétique avec épilepsie"},"de":{"name":"Energiestoffwechselstörung mit Epilepsie"},"es":{"name":"Anomalía del metabolismo energético con epilepsia"},"it":{"name":"Disturbo del metabolsimo energetico associato a epilessia"},"nl":{"name":"Energiestofwisselingsstoornis met epilepsie"},"pt":{"name":"Doença do metabolismo energético com epilepsia"},"pl":{"name":"Zaburzenie metabolizmu energii z padaczką"},"cs":{"name":"Porucha energetického metabolismu s epilepsií"},"uk":{"name":"Порушення енергетичного обміну з епілепсією"},"zh":{"name":"能量代谢障碍伴癫痫"},"tr":{"name":"Epilepsi ile seyreden enerji metabolizması bozukluğu"}},"xrefs":[{"source":"MONDO","code":"16401","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680896","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":166481,"name":"Metabolic diseases with epilepsy","classifications":[156,181]}],"children":[{"orpha":79172,"name":"Creatine deficiency syndrome","type":"Clinical group"},{"orpha":35706,"name":"Glutaric acidemia type 3","type":"Disease"},{"orpha":71212,"name":"Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency","type":"Disease"},{"orpha":225700,"name":"Mitochondrial disease with epilepsy","type":"Category"},{"orpha":868,"name":"Triose phosphate-isomerase deficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}