{"orpha":79207,"name":"Disorder of lysosomal amino acid transport","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-79207/","orphanet_url":"https://www.orpha.net/en/disease/detail/79207","names":{"fr":{"name":"Anomalie de transport lysosomal des acides aminés"},"de":{"name":"Lysosomaler Aminosäure-Transportdefekt"},"es":{"name":"Trastornos del transporte lisosomal de los aminoácidos"},"it":{"name":"Difetto del trasporto lisosomiale degli aminoacidi"},"nl":{"name":"Stoornis van lysosomaal aminozuurtransport"},"pt":{"name":"Defeito no transporte lisossomal"},"pl":{"name":"Zaburzenie transportu lizosomalnych aminokwasów"},"cs":{"name":"Porucha lysosomálního transportu aminokyselin"},"uk":{"name":"Порушення лізосомального транспорту амінокислот"},"zh":{"name":"溶酶体氨基酸转运异常"},"tr":{"name":"Lizozomal amino asit taşınması bozukluğu"}},"xrefs":[{"source":"MONDO","code":"0019246","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19246","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681276","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":68366,"name":"Lysosomal disease","classifications":[150,156]}],"children":[{"orpha":213,"name":"Cystinosis","type":"Disease"},{"orpha":834,"name":"Free sialic acid storage disease","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}