{"orpha":262995,"name":"Partial duplication of the long arm of chromosome 20 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial duplication of chromosome 20q","Partial trisomy of chromosome 20q","Partial trisomy of the long arm of chromosome 20"],"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-262995/","orphanet_url":"https://www.orpha.net/en/disease/detail/262995","names":{"fr":{"name":"Syndrome de duplication partielle du bras long du chromosome 20","synonyms":["Duplication partielle du chromosome 20q","Trisomie partielle du bras long du chromosome 20","Trisomie partielle du chromosome 20q"]},"de":{"name":"Partielle Duplikation des langen Arms von Chromosom 20","synonyms":["Chromosom 20q-Duplikation, partielle","Partielle Duplikation 20q"]},"es":{"name":"Síndrome de duplicación parcial del brazo largo del cromosoma 20","synonyms":["Duplicación parcial del cromosoma 20q","Trisomía parcial del brazo largo del cromosoma 20","Trisomía parcial del cromosoma 20q"]},"it":{"name":"Sindrome duplicazione parziale del braccio lungo del cromosoma 20","synonyms":["Trisomia parziale del braccio lungo del cromosoma 20","Duplicazione parziale del cromosoma 20q","Trisomia parziale del cromosoma 20q"]},"nl":{"name":"Partiële duplicatie van de lange arm van chromosoom 20-syndroom","synonyms":["Partiële duplicatie van chromosoom 20q","Partiële trisomie van chromosoom 20q","Partiële trisomie van de lange arm van chromosoom 20"]},"pt":{"name":"Duplicação parcial do braço longo do cromossoma 20","synonyms":["Duplicação parcial do cromossoma 20q","Trissomia parcial do braço longo do cromossoma 20","Trissomia parcial do cromossoma 20q"]},"pl":{"name":"Zespół częściowej duplikacji długiego ramienia chromosomu 20","synonyms":["Częściowa duplikacja chromosomu 20q","Częściowa duplikacja długiego ramienia chromosomu 20","Częściowa trisomia chromosomu 20q"]},"cs":{"name":"Parciální trizomie dlouhého raménka chromozomu 20","synonyms":["Parciální duplikace 20q","Parciální duplikace dlouhého raménka chromozomu 20","Parciální trizomie 20q"]},"uk":{"name":"Часткове дуплікація довгого плеча хромосоми 20","synonyms":["Часткова дуплікація хромосоми 20q","Часткова трисомія хромосоми 20q","Часткова трисомія довгого плеча хромосоми 20"]},"zh":{"name":"20号染色体长臂部分三体","synonyms":["20号染色体长臂部分重复"]},"tr":{"name":"20. kromozomun uzun kolunun kısmi trizomisi","synonyms":["20q kromozomunun kısmi trizomisi","20q kromozomunun kısmi duplikasyonu","20. Kromozomun uzun kolunun kısmi duplikasyonu"]}},"xrefs":[{"source":"ICD-11","code":"LD41.K0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1196484734"},{"source":"MONDO","code":"0016970","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16970","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679695","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262692,"name":"Partial duplication of chromosome 20 syndrome","classifications":[147,156]}],"children":[{"orpha":363659,"name":"20q11.2 microduplication syndrome","type":"Malformation syndrome"},{"orpha":96107,"name":"Distal duplication 20q syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}