{"orpha":225686,"name":"Peroxisomal disease 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-225686/","orphanet_url":"https://www.orpha.net/en/disease/detail/225686","names":{"fr":{"name":"Maladie péroxysomale avec épilepsie"},"de":{"name":"Peroxisomale Krankheit mit Epilepsie"},"es":{"name":"Enfermedad peroxisomal con epilepsia"},"it":{"name":"Malattia perossisomiale associata a epilessia"},"nl":{"name":"Peroxisomale ziekte met epilepsie"},"pt":{"name":"Doença peroxissomal com epilepsia"},"pl":{"name":"Choroba peroksysomalna z padaczką"},"cs":{"name":"Peroxizomální onemocnění s epilepsií"},"uk":{"name":"Пероксисомальна хвороба з епілепсією"},"zh":{"name":"过氧化物酶体病伴癫痫"},"tr":{"name":"Epilepsi ile seyreden peroksizomal hastalık"}},"xrefs":[{"source":"MONDO","code":"16398","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680899","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":438178,"name":"Fatty acyl-CoA reductase 1 deficiency","type":"Disease"},{"orpha":772,"name":"Infantile Refsum disease","type":"Disease"},{"orpha":44,"name":"Neonatal adrenoleukodystrophy","type":"Disease"},{"orpha":2971,"name":"Peroxisomal acyl-CoA oxidase deficiency","type":"Disease"},{"orpha":177,"name":"Rhizomelic chondrodysplasia punctata","type":"Disease"},{"orpha":43,"name":"X-linked adrenoleukodystrophy","type":"Disease"},{"orpha":912,"name":"Zellweger syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}