{"orpha":262923,"name":"Partial duplication of the long arm of chromosome 11 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial duplication of chromosome 11q","Partial trisomy of chromosome 11q","Partial trisomy of the long arm of chromosome 11"],"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-262923/","orphanet_url":"https://www.orpha.net/en/disease/detail/262923","names":{"fr":{"name":"Syndrome de duplication partielle du bras long du chromosome 11","synonyms":["Duplication partielle du chromosome 11q","Trisomie partielle du bras long du chromosome 11","Trisomie partielle du chromosome 11q"]},"de":{"name":"Chromosom 11, partielle Duplikation des langen Arms","synonyms":["Chromosom 11q-Duplikation, partielle","Partielle Duplikation 11q","Partielle Trisomie des langen Arms von Chromosom 11"]},"es":{"name":"Síndrome de duplicación parcial del brazo largo del cromosoma 11","synonyms":["Duplicación parcial del cromosoma 11q","Trisomía parcial del brazo largo del cromosoma 11","Trisomía parcial del cromosoma 11q"]},"it":{"name":"Sindrome duplicazione parziale del braccio lungo del cromosoma 11","synonyms":["Duplicazione parziale del cromosoma 11q","Trisomia parziale del braccio lungo del cromosoma 11","Trisomia parziale del cromosoma 11q"]},"nl":{"name":"Partiële duplicatie van de lange arm van chromosoom 11-syndroom","synonyms":["Partiële duplicatie van chromosoom 11q","Partiële trisomie van chromosoom 11q","Partiële trisomie van de lange arm van chromosoom 11"]},"pt":{"name":"Trissomia parcial do braço longo do cromossoma 11"},"pl":{"name":"Zespół częściowej duplikacji długiego ramienia chromosomu 11","synonyms":["Częściowa duplikacja chromosomu 11q","Częściowa trisomia chromosomu 11q","Częściowa trisomia długiego ramienia chromosomu 11"]},"cs":{"name":"Parciální duplikace dlouhého raménka chromozomu 11","synonyms":["Parciální duplikace 11q","Parciální trizomie 11q","Parciální trizomie dlouhého raménka chromozomu 11"]},"uk":{"name":"Часткове дуплікація довгого плеча хромосоми 11","synonyms":["Часткова дуплікація хромосоми 11q","Часткова трисомія хромосоми 11q","Часткова трисомія довгого плеча хромосоми 11"]},"zh":{"name":"11号染色体长臂部分重复","synonyms":["11号染色体长臂部分三体"]},"tr":{"name":"11. kromozomun uzun kolunun kısmi duplikasyonu","synonyms":["11q kromozomunun kısmi trizomisi","11q kromozomunun kısmi duplikasyonu","11. Kromozomun uzun kolunun kısmi trizomisi"]}},"xrefs":[{"source":"MONDO","code":"0022173","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679700","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262653,"name":"Partial duplication of chromosome 11 syndrome","classifications":[147,156]}],"children":[{"orpha":96103,"name":"Distal duplication 11q syndrome","type":"Malformation syndrome"},{"orpha":289522,"name":"Microtriplication 11q24.1 syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}