{"orpha":225681,"name":"Lysosomal 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-225681/","orphanet_url":"https://www.orpha.net/en/disease/detail/225681","names":{"fr":{"name":"Maladie lysosomale avec épilepsie"},"de":{"name":"Lysosomale Störung mit Epilepsie"},"es":{"name":"Enfermedad lisosomal con epilepsia"},"it":{"name":"Malattia lisosomiale associata a epilessia"},"nl":{"name":"Lysosomale ziekte met epilepsie"},"pt":{"name":"Doença lisossomal com epilepsia"},"pl":{"name":"Choroba lizosomalna z padaczką"},"cs":{"name":"Lysozomální onemocnění s epilepsií"},"uk":{"name":"Лізосомальна хвороба з епілепсією"},"zh":{"name":"溶酶体病伴癫痫"},"tr":{"name":"Epilepsi ile seyreden lizozomal hastalık"}},"xrefs":[{"source":"MONDO","code":"16397","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680898","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":3137,"name":"Alpha-N-acetylgalactosaminidase deficiency","type":"Disease"},{"orpha":93,"name":"Aspartylglucosaminuria","type":"Disease"},{"orpha":834,"name":"Free sialic acid storage disease","type":"Disease"},{"orpha":578,"name":"Mucolipidosis type IV","type":"Disease"},{"orpha":581,"name":"Mucopolysaccharidosis type 3","type":"Disease"},{"orpha":216,"name":"Neuronal ceroid lipofuscinosis","type":"Clinical group"},{"orpha":371442,"name":"Sphingolipidosis with epilepsy","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}