{"orpha":225710,"name":"Sterol 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-225710/","orphanet_url":"https://www.orpha.net/en/disease/detail/225710","names":{"fr":{"name":"Anomalie du métabolisme des stérols avec épilepsie"},"de":{"name":"Sterol-Stoffwechselstörung mit Epilepsie"},"es":{"name":"Anomalía del metabolismo de los esteroles con epilepsia"},"it":{"name":"Disturbo del metabolismo degli steroli associata a epilessia"},"nl":{"name":"Stoornis van sterolmetabolisme met epilepsie"},"pt":{"name":"Doença do metabolismo dos esteróis com epilepsia"},"pl":{"name":"Zaburzenie metabolizmu steroli z padaczką"},"cs":{"name":"Porucha metabolismu sterolů s epilepsií"},"uk":{"name":"Порушення обміну стеролів з епілепсією"},"zh":{"name":"固醇代谢障碍伴癫痫"},"tr":{"name":"Epilepsi ile seyreden steroid metabolizması bozukluğu"}},"xrefs":[{"source":"MONDO","code":"16405","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680902","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":909,"name":"Cerebrotendinous xanthomatosis","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}