{"orpha":166481,"name":"Metabolic diseases 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-166481/","orphanet_url":"https://www.orpha.net/en/disease/detail/166481","names":{"fr":{"name":"Maladie métabolique associée à une épilepsie"},"de":{"name":"Stoffwechselstörung mit Epilepsie"},"es":{"name":"Enfermedades metabólicas con epilepsia"},"it":{"name":"Malattia metabolica con epilessia"},"nl":{"name":"Stofwisselingsziektes met epilepsie"},"pt":{"name":"Doenças metabólicas com epilepsia"},"pl":{"name":"Choroba metaboliczna z padaczką"},"cs":{"name":"Metabolické nemoci s epilepsií"},"uk":{"name":"Метаболічні захворювання з епілепсією"},"zh":{"name":"代谢性疾病伴癫痫"},"tr":{"name":"Epilepsi ile seyreden metabolik hastalıklar"}},"xrefs":[{"source":"MONDO","code":"15656","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1299598","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":101998,"name":"Rare epilepsy","classifications":[181]},{"orpha":183512,"name":"Rare genetic epilepsy","classifications":[156]}],"children":[{"orpha":225689,"name":"Amino acid or protein metabolism disease with epilepsy","type":"Category"},{"orpha":371071,"name":"Congenital disorder of glycosylation with epilepsy as a major feature","type":"Category"},{"orpha":225696,"name":"Energy metabolism disorder with epilepsy","type":"Category"},{"orpha":225681,"name":"Lysosomal disease with epilepsy","type":"Category"},{"orpha":225707,"name":"Metabolic neurotransmission anomaly with epilepsy","type":"Category"},{"orpha":225692,"name":"Metal transport or utilization disorder with epilepsy","type":"Category"},{"orpha":225713,"name":"Other metabolic disease with epilepsy","type":"Category"},{"orpha":225686,"name":"Peroxisomal disease with epilepsy","type":"Category"},{"orpha":225710,"name":"Sterol metabolism disorder with epilepsy","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}