{"orpha":262905,"name":"Partial duplication of the long arm of chromosome 9 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial duplication of chromosome 9q","Partial trisomy of chromosome 9q","Partial trisomy of the long arm of chromosome 9"],"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-262905/","orphanet_url":"https://www.orpha.net/en/disease/detail/262905","names":{"fr":{"name":"Syndrome de duplication partielle du bras long du chromosome 9","synonyms":["Duplication partielle du chromosome 9q","Trisomie partielle du bras long du chromosome 9","Trisomie partielle du chromosome 9q"]},"de":{"name":"Partielle Duplikation des langen Arms von Chromosom 9","synonyms":["Chromosom 9q-Duplikation, partielle","Partielle Duplikation 9q"]},"es":{"name":"Síndrome de duplicación parcial del brazo largo del cromosoma 9","synonyms":["Duplicación parcial del cromosoma 9q","Trisomía parcial del brazo largo del cromosoma 9","Trisomía parcial del cromosoma 9q"]},"it":{"name":"Sindrome duplicazione parziale del braccio lungo del cromosoma 9","synonyms":["Trisomia parziale del braccio lungo del cromosoma 9","Duplicazione parziale del cromosoma 9q","Trisomia parziale del cromosoma 9q"]},"nl":{"name":"Partiële duplicatie van de lange arm van chromosoom 9-syndroom","synonyms":["Partiële duplicatie van chromosoom 9q","Partiële trisomie van chromosoom 9q","Partiële trisomie van de lange arm van chromosoom 9"]},"pt":{"name":"Duplicação parcial do braço longo do cromossoma 9","synonyms":["Duplicação parcial do cromossoma 9q","Trissomia parcial do braço longo do cromossoma 9","Trissomia parcial do cromossoma 9q"]},"pl":{"name":"Zespół częściowej duplikacji długiego ramienia chromosomu 9","synonyms":["Częściowa duplikacja chromosomu 9q","Częściowa duplikacja długiego ramienia chromosomu 9","Częściowa trisomia chromosomu 9q"]},"cs":{"name":"Parciální trizomie dlouhého raménka chromozomu 9","synonyms":["Parciální duplikace 9q","Parciální duplikace dlouhého raménka chromozomu 9","Parciální trizomie 9q"]},"uk":{"name":"Часткова дуплікація довгого плеча хромосоми 9","synonyms":["Часткова дуплікація хромосоми 9q","Часткова трисомія хромосоми 9q","Часткова трисомія довгого плеча хромосоми 9"]},"zh":{"name":"9号染色体长臂部分三体","synonyms":["9号染色体长臂部分重复"]},"tr":{"name":"9. kromozomun uzun kolunun kısmi trizomisi","synonyms":["9q kromozomunun kısmi trizomisi","9q kromozomunun kısmi duplikasyonu","9. Kromozomun uzun kolunun kısmi duplikasyonu"]}},"xrefs":[{"source":"ICD-11","code":"LD41.81","qualifier":"NTBT","icd_relation":"specific","validated":true},{"source":"MONDO","code":"0016960","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16960","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679702","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262643,"name":"Partial duplication/triplication of chromosome 9 syndrome","classifications":[147,156]}],"children":[{"orpha":96101,"name":"Distal duplication 9q syndrome","type":"Malformation syndrome"},{"orpha":96112,"name":"Non-distal duplication 9q syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}