{"orpha":262959,"name":"Partial duplication of the long arm of chromosome 16 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial duplication of chromosome 16q","Partial trisomy of chromosome 16q","Partial trisomy of the long arm of chromosome 16"],"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-262959/","orphanet_url":"https://www.orpha.net/en/disease/detail/262959","names":{"fr":{"name":"Syndrome de duplication partielle du bras long du chromosome 16","synonyms":["Duplication partielle du chromosome 16q","Trisomie partielle du bras long du chromosome 16","Trisomie partielle du chromosome 16q"]},"de":{"name":"Partielle Duplikation des langen Arms von Chromosom 16","synonyms":["Chromosom 16q-Duplikation, partielle","Partielle Duplikation 16q"]},"es":{"name":"Síndrome de duplicación parcial del brazo largo del cromosoma 16","synonyms":["Duplicación parcial del cromosoma 16q","Trisomía parcial del brazo largo del cromosoma 16","Trisomía parcial del cromosoma 16q"]},"it":{"name":"Sindrome duplicazione parziale del braccio lungo del cromosoma 16","synonyms":["Trisomia parziale del braccio lungo del cromosoma 16","Duplicazione parziale del cromosoma 16q","Trisomia parziale del cromosoma 16q"]},"nl":{"name":"Partiële duplicatie van de lange arm van chromosoom 16-syndroom","synonyms":["Partiële duplicatie van chromosoom 16q","Partiële trisomie van chromosoom 16q","Partiële trisomie van de lange arm van chromosoom 16"]},"pt":{"name":"Duplicação parcial do braço longo do cromossoma 16","synonyms":["Duplicação parcial do cromossoma 16q","Trissomia parcial do braço longo do cromossoma 16","Trissomia parcial do cromossoma 16q"]},"pl":{"name":"Zespół częściowej duplikacji długiego ramienia chromosomu 16","synonyms":["Częściowa duplikacja chromosomu 16q","Częściowa duplikacja długiego ramienia chromosomu 16","Częściowa trisomia chromosomu 16q"]},"cs":{"name":"Parciální trizomie dlouhého raménka chromozomu 16","synonyms":["Parciální duplikace 16q","Parciální duplikace dlouhého raménka chromozomu 16","Parciální trizomie 16q"]},"uk":{"name":"Часткова дуплікація довгого плеча хромосоми 16","synonyms":["Часткова дуплікація хромосоми 16q","Часткова трисомія хромосоми 16q","Часткова трисомія довгого плеча хромосоми 16"]},"zh":{"name":"16号染色体长臂部分三体","synonyms":["16号染色体长臂部分重复"]},"tr":{"name":"16. kromozomun uzun kolunun kısmi trizomisi","synonyms":["16q kromozomunun kısmi trizomisi","16q kromozomunun kısmi duplikasyonu","16. kromozomun uzun kolunun kısmi duplikasyonu"]}},"xrefs":[{"source":"ICD-11","code":"LD41.F0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"126160943"},{"source":"MONDO","code":"0016966","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16966","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5566361","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262672,"name":"Partial duplication of chromosome 16 syndrome","classifications":[147,156]}],"children":[{"orpha":96106,"name":"Distal duplication 16q syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}