{"orpha":262914,"name":"Partial duplication of the long arm of chromosome 10 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial duplication of chromosome 10q","Partial trisomy of chromosome 10q","Partial trisomy of the long arm of chromosome 10"],"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-262914/","orphanet_url":"https://www.orpha.net/en/disease/detail/262914","names":{"fr":{"name":"Syndrome de duplication partielle du bras long du chromosome 10","synonyms":["Duplication partielle du chromosome 10q","Trisomie partielle du bras long du chromosome 10","Trisomie partielle du chromosome 10q"]},"de":{"name":"Chromosom 10, partielle Duplikation des langen Arms","synonyms":["Chromosom 10q-Duplikation, partielle","Partielle Duplikation 10q","Partielle Trisomie des langen Arms von Chromosom 10"]},"es":{"name":"Síndrome de duplicación parcial del brazo largo del cromosoma 10","synonyms":["Duplicación parcial del cromosoma 10q","Trisomía parcial del brazo largo del cromosoma 10","Trisomía parcial del cromosoma 10q"]},"it":{"name":"Sindrome duplicazione parziale del braccio lungo del cromosoma 10","synonyms":["Duplicazione parziale del cromosoma 10q","Trisomia parziale del braccio lungo del cromosoma 10","Trisomia parziale del cromosoma 10q"]},"nl":{"name":"Partiële duplicatie van de lange arm van chromosoom 10-syndroom","synonyms":["Partiële duplicatie van chromosoom 10q","Partiële trisomie van chromosoom 10q","Partiële trisomie van de lange arm van chromosoom 10"]},"pt":{"name":"Trissomia parcial do braço longo do cromossoma 10"},"pl":{"name":"Zespół częściowej duplikacji długiego ramienia chromosomu 10","synonyms":["Częściowa duplikacja chromosomu 10q","Częściowa trisomia chromosomu 10q","Częściowa trisomia długiego ramienia chromosomu 10"]},"cs":{"name":"Parciální duplikace dlouhého raménka chromozomu 10","synonyms":["Parciální duplikace 10q","Parciální trizomie 10q","Parciální trizomie dlouhého raménka chromozomu 10"]},"uk":{"name":"Часткове дуплікація довгого плеча хромосоми 10","synonyms":["Часткова дуплікація хромосоми 10q","Часткова трисомія хромосоми 10q","Часткова трисомія довгого плеча хромосоми 10"]},"zh":{"name":"10号染色体长臂部分重复","synonyms":["10号染色体长臂部分三体"]},"tr":{"name":"10. kromozomun uzun kolunun kısmi duplikasyonu","synonyms":["10q kromozomunun kısmi trizomisi","10q kromozomunun kısmi duplikasyonu","10. kromozomun uzun kolunun kısmi trizomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD41.90","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2004070452"},{"source":"MONDO","code":"0016961","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16961","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679701","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262648,"name":"Partial duplication of chromosome 10 syndrome","classifications":[147,156]}],"children":[{"orpha":276422,"name":"10q22.3q23.3 microduplication syndrome","type":"Malformation syndrome"},{"orpha":96102,"name":"Distal duplication 10q syndrome","type":"Malformation syndrome"},{"orpha":1307,"name":"Distal limb deficiencies-micrognathia syndrome","type":"Malformation syndrome"},{"orpha":1695,"name":"Non-distal duplication 10q syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}