{"orpha":262878,"name":"Partial duplication of the long arm of chromosome 6 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial duplication of chromosome 6q","Partial trisomy of chromosome 6q","Partial trisomy of the long arm of chromosome 6"],"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-262878/","orphanet_url":"https://www.orpha.net/en/disease/detail/262878","names":{"fr":{"name":"Syndrome de duplication partielle du bras long du chromosome 6","synonyms":["Duplication partielle du chromosome 6q","Trisomie partielle du bras long du chromosome 6","Trisomie partielle du chromosome 6q"]},"de":{"name":"Chromosom 6, partielle Duplikation des langen Arms","synonyms":["Chromosom 6q-Duplikation, partielle","Partielle Duplikation 6q","Partielle Trisomie des langen Arms von Chromosom 6"]},"es":{"name":"Síndrome de duplicación parcial del brazo largo del cromosoma 6","synonyms":["Duplicación parcial del cromosoma 6q","Trisomía parcial del brazo largo del cromosoma 6","Trisomía parcial del cromosoma 6q"]},"it":{"name":"Sindrome duplicazione parziale del braccio lungo del cromosoma 6","synonyms":["Trisomia parziale del cromosoma 6q","Duplicazione parziale del cromosoma 6q","Trisomia parziale del braccio lungo del cromosoma 6"]},"nl":{"name":"Partiële duplicatie van de lange arm van chromosoom 6-syndroom","synonyms":["Partiële duplicatie van chromosoom 6q","Partiële trisomie van chromosoom 6q","Partiële trisomie van de lange arm van chromosoom 6"]},"pt":{"name":"Trissomia parcial do braço longo do cromossoma 6"},"pl":{"name":"Zespół częściowej duplikacji długiego ramienia chromosomu 6","synonyms":["Częściowa duplikacja chromosomu 6q","Częściowa trisomia chromosomu 6q","Częściowa trisomia długiego ramienia chromosomu 6"]},"cs":{"name":"Parciální duplikace dlouhého raménka chromozomu 6","synonyms":["Parciální duplikace 6q","Parciální trizomie 6q","Parciální trizomie dlouhého raménka chromozomu 6"]},"uk":{"name":"Часткова дуплікація довгого плеча хромосоми 6","synonyms":["Часткова дуплікація хромосоми 6q","Часткова трисомія хромосоми 6q","Часткова трисомія довгого плеча хромосоми 6"]},"zh":{"name":"6号染色体长臂部分重复","synonyms":["6号染色体长臂部分三体"]},"tr":{"name":"6. kromozomun uzun kolunun kısmi duplikasyonu","synonyms":["6q kromozomunun kısmi trizomisi","6q kromozomunun kısmi duplikasyonu","6. kromozomun uzun kolunun kısmi trizomi"]}},"xrefs":[{"source":"ICD-11","code":"LD41.50","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"149091243"},{"source":"MONDO","code":"0016957","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16957","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679708","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262628,"name":"Partial duplication of chromosome 6 syndrome","classifications":[147,156]}],"children":[{"orpha":96098,"name":"Distal duplication 6q syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}