{"orpha":309340,"name":"Disorder of lysosomal-related organelles","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-309340/","orphanet_url":"https://www.orpha.net/en/disease/detail/309340","names":{"fr":{"name":"Anomalie des organelles type lysosomes"},"de":{"name":"Störung der Lysosomen-verwandten Organellen"},"es":{"name":"Trastornos de los orgánulos relacionados con los lisosomas"},"it":{"name":"Difetto degli organelli associati ai lisosomi"},"nl":{"name":"Stoornis van lysosomaal-gerelateerde organellen"},"pt":{"name":"Doença de organelas lisossoma-relacionado"},"pl":{"name":"Zaburzenia organelli związanych z lizosomami"},"cs":{"name":"Poruchy organel blízkých lysozomům"},"uk":{"name":"Хвороба лізосом-повязаних органел"},"zh":{"name":"溶酶体相关细胞器紊乱"},"tr":{"name":"Lizozomal-ilişkili organellerin bozukluğu"}},"xrefs":[{"source":"MONDO","code":"0017739","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17739","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681043","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":68367,"name":"Rare inborn error of metabolism","classifications":[150,156]}],"children":[{"orpha":167,"name":"Chédiak-Higashi syndrome","type":"Disease"},{"orpha":2342,"name":"Haim-Munk syndrome","type":"Disease"},{"orpha":79430,"name":"Hermansky-Pudlak syndrome","type":"Disease"},{"orpha":678,"name":"Papillon-Lefèvre syndrome","type":"Disease"},{"orpha":675782,"name":"Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}