{"orpha":262950,"name":"Partial duplication of the long arm of chromosome 15 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial duplication of chromosome 15q","Partial trisomy of chromosome 15q","Partial trisomy of the long arm of chromosome 15"],"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-262950/","orphanet_url":"https://www.orpha.net/en/disease/detail/262950","names":{"fr":{"name":"Syndrome de duplication partielle du bras long du chromosome 15","synonyms":["Duplication partielle du chromosome 15q","Trisomie partielle du bras long du chromosome 15","Trisomie partielle du chromosome 15q"]},"de":{"name":"Chromosom 15, partielle Duplikation des langen Arms","synonyms":["Chromosom 15q-Duplikation, partielle","Partielle Duplikation 15q","Partielle Trisomie des langen Arms von Chromosom 15"]},"es":{"name":"Síndrome de duplicación parcial del brazo largo del cromosoma 15","synonyms":["Duplicación parcial del cromosoma 15q","Trisomía parcial del brazo largo del cromosoma 15","Trisomía parcial del cromosoma 15q"]},"it":{"name":"Sindrome duplicazione parziale del braccio lungo del cromosoma 15","synonyms":["Duplicazione parziale del cromosoma 15q","Trisomia parziale del braccio lungo del cromosoma 15","Trisomia parziale del cromosoma 15q"]},"nl":{"name":"Partiële trisomie van de lange arm van chromosoom 15-syndroom","synonyms":["Partiële duplicatie van chromosoom 15q","Partiële trisomie van chromosoom 15q","Partiële trisomie van de lange arm van chromosoom 15"]},"pt":{"name":"Trissomia parcial do braço longo do cromossoma 15"},"pl":{"name":"Zespół częściowej duplikacji długiego ramienia chromosomu 15","synonyms":["Częściowa duplikacja chromosomu 15q","Częściowa trisomia chromosomu 15q","Częściowa trisomia długiego ramienia chromosomu 15"]},"cs":{"name":"Parciální duplikace dlouhého raménka chromozomu 15","synonyms":["Parciální duplikace 15q","Parciální trizomie 15q","Parciální trizomie dlouhého raménka chromozomu 15"]},"uk":{"name":"Часткова дуплікація довгого плеча хромосоми 15","synonyms":["Часткова дуплікація хромосоми 15q","Часткова трисомія хромосоми 15q","Часткова трисомія довгого плеча хромосоми 15"]},"zh":{"name":"15号染色体长臂部分重复","synonyms":["15号染色体长臂部分三体"]},"tr":{"name":"15. kromozomun uzun kolunun kısmi duplikasyonu","synonyms":["15q kromozomunun kısmi trizomisi","15q kromozomunun kısmi duplikasyonu","15. Kromozomun uzun kolunun kısmi trizomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD41.E","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"846398744"},{"source":"MONDO","code":"0016965","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16965","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5566335","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98132,"name":"Partial autosomal duplication/triplication syndrome","classifications":[147,156]}],"children":[{"orpha":314585,"name":"15q overgrowth syndrome","type":"Malformation syndrome"},{"orpha":238446,"name":"15q11q13 microduplication syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}