{"orpha":331249,"name":"Primary hemophagocytic lymphohistiocytosis with hypopigmentation","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Genetic HLH with hypopigmentation","Genetic hemophagocytic lymphohistiocytosis with hypopigmentation","Primary HLH with hypopigmentation"],"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-331249/","orphanet_url":"https://www.orpha.net/en/disease/detail/331249","names":{"fr":{"name":"Lymphohistiocytose hémophagocytaire primaire avec hypopigmentation","synonyms":["HLH génétique avec hypopigmentation","HLH primaire avec hypopigmentation","Hémophagocytose lymphohistiocytaire génétique avec hypopigmentation","Hémophagocytose lymphohistiocytaire primaire avec hypopigmentation","Lymphohistiocytose hémophagocytaire génétique avec hypopigmentation"]},"de":{"name":"Primäre hämophagozytische Lymphohistiozytose mit Hypopigmentierung","synonyms":["Genetische Form der hämophagozytischen Lymphohistiozytose mit Hypopigmentierung","Primäre HLH mit Hypopigmentierung"]},"es":{"name":"Linfohistiocitosis hemofagocítica primaria con hipopigmentación","synonyms":["LHH familiar con hipopigmentación","LHH genética con hipopigmentación","LHH primaria con hipopigmentación","Linfohistiocitosis hemofagocítica familiar con hipopigmentación","Linfohistiocitosis hemofagocítica genética con hipopigmentación"]},"it":{"name":"Linfoistiocitosi emofagocitica primaria con ipopigmentazione","synonyms":["HLH genetica con ipopigmentazione","HLH primaria con ipopigmentazione","Linfoistiocitosi emofagocitica genetica con ipopigmentazione"]},"nl":{"name":"Primaire hemofagocytaire lymfohistiocytose met hypopigmentatie","synonyms":["Genetische HLH met hypopigmentatie","Genetische hemofagocytaire lymfohistiocytose met hypopigmentatie","Primaire HLH met hypopigmentatie"]},"pt":{"name":"Linfohistiocitose hemofagocitica primária com hipopigmentação","synonyms":["HLH genética com hipopigmentação","HLH primária com hipopigmentação","Linfohistiocitose hemofagocitica genética com hipopigmentação"]},"pl":{"name":"Pierwotna limfohistiocytoza hemofagocytarna z hipopigmentacją","synonyms":["Pierwotna limfohistiocytoza hemofagocytarna z hipopigmentacją"]},"cs":{"name":"Syndrom imunodeficience s hypopigmentací","synonyms":["Genetic HLH with hypopigmentation","Genetic hemophagocytic lymphohistiocytosis with hypopigmentation","Primary HLH with hypopigmentation"]},"uk":{"name":"Первинний гемофагоцитарний лімфогістіоцитоз з гіпопігментацією","synonyms":["Генетичний гемофагоцитарний лімфогістіоцитоз з гіпопігментацією","Генетична HLH з гіпопігментацією","Первинна HLH з гіпопігментацією"]},"zh":{"name":"免疫缺陷综合征伴色素减退"},"tr":{"name":"Hipopigmentasyon ile seyreden immün yetmezlik sendromu"}},"xrefs":[{"source":"ICD-11","code":"4A01.20","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2015243510"},{"source":"MONDO","code":"18042","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925007","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":158038,"name":"Primary hemophagocytic lymphohistiocytosis","classifications":[156,195,233]}],"children":[{"orpha":167,"name":"Chédiak-Higashi syndrome","type":"Disease"},{"orpha":79477,"name":"Griscelli syndrome type 2","type":"Clinical subtype"},{"orpha":183678,"name":"Hermansky-Pudlak syndrome due to AP-3 deficiency","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}