{"orpha":371442,"name":"Sphingolipidosis 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-371442/","orphanet_url":"https://www.orpha.net/en/disease/detail/371442","names":{"fr":{"name":"Sphingolipidose avec épilepsie"},"de":{"name":"Sphingolipidose mit Epilepsie"},"es":{"name":"Esfingolipidosis con epilepsia"},"it":{"name":"Sfingolipidosi con epilessia"},"nl":{"name":"Sfingolipidose met epilepsie"},"pt":{"name":"Esfingolipidose com epilepsia"},"pl":{"name":"Sfingolipidoza z padaczką"},"cs":{"name":"Sfingolipidóza s epilepsií"},"uk":{"name":"Сфінголіпідоз з епілепсією"},"zh":{"name":"鞘脂类代谢障碍伴癫痫"},"tr":{"name":"Epilepsi ile seyreden sfingolipidoz"}},"xrefs":[{"source":"MONDO","code":"18299","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681152","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":225681,"name":"Lysosomal disease with epilepsy","classifications":[156,181]}],"children":[{"orpha":618891,"name":"Chronic neurovisceral acid sphingomyelinase deficiency","type":"Disease"},{"orpha":139406,"name":"Encephalopathy due to prosaposin deficiency","type":"Disease"},{"orpha":324,"name":"Fabry disease","type":"Disease"},{"orpha":333,"name":"Farber disease","type":"Disease"},{"orpha":309144,"name":"Gangliosidosis","type":"Category"},{"orpha":77260,"name":"Gaucher disease type 2","type":"Clinical subtype"},{"orpha":77261,"name":"Gaucher disease type 3","type":"Clinical subtype"},{"orpha":77292,"name":"Infantile neurovisceral acid sphingomyelinase deficiency","type":"Disease"},{"orpha":487,"name":"Krabbe disease","type":"Disease"},{"orpha":512,"name":"Metachromatic leukodystrophy","type":"Disease"},{"orpha":585,"name":"Multiple sulfatase deficiency","type":"Disease"},{"orpha":646,"name":"Niemann-Pick disease type C","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}