{"orpha":262869,"name":"Partial duplication of the long arm of chromosome 5 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial duplication of chromosome 5q","Partial trisomy of chromosome 5q","Partial trisomy of the long arm of chromosome 5"],"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-262869/","orphanet_url":"https://www.orpha.net/en/disease/detail/262869","names":{"fr":{"name":"Syndrome de duplication partielle du bras long du chromosome 5","synonyms":["Duplication partielle du chromosome 5q","Trisomie partielle du bras long du chromosome 5","Trisomie partielle du chromosome 5q"]},"de":{"name":"Partielle Duplikation des langen Arms von Chromosom 5","synonyms":["Chromosom 5q-Duplikation, partielle","Partielle Duplikation 5q"]},"es":{"name":"Síndrome de duplicación parcial del brazo largo del cromosoma 5","synonyms":["Duplicación parcial del cromosoma 5q","Trisomía parcial del brazo largo del cromosoma 5","Trisomía parcial del cromosoma 5q"]},"it":{"name":"Sindrome duplicazione parziale del braccio lungo del cromosoma 5","synonyms":["Trisomia parziale del braccio lungo del cromosoma 5","Duplicazione parziale del cromosoma 5q","Trisomia parziale del cromosoma 5q"]},"nl":{"name":"Partiële duplicatie van lange arm van chromosoom 5-syndroom","synonyms":["Partiële duplicatie van chromosoom 5q","Partiële trisomie van chromosoom 5q","Partiële trisomie van lange arm van chromosoom 5"]},"pt":{"name":"Duplicação parcial do braço longo do cromossoma 5","synonyms":["Duplicação parcial do cromossoma 5q","Trissomia parcial do braço longo do cromossoma 5","Trissomia parcial do cromossoma 5q"]},"pl":{"name":"Zespół częściowej duplikacji długiego ramienia chromosomu 5","synonyms":["Częściowa duplikacja chromosomu 5q","Częściowa duplikacja długiego ramienia chromosomu 5","Częściowa trisomia chromosomu 5q"]},"cs":{"name":"Parciální trizomie dlouhého raménka chromozomu 5","synonyms":["Parciální duplikace 5q","Parciální duplikace dlouhého raménka chromozomu 5","Parciální trizomie 5q"]},"uk":{"name":"Часткове дуплікація довгого плеча хромосоми 5","synonyms":["Часткова дуплікація хромосоми 5q","Часткова трисомія хромосоми 5q","Часткова трисомія довгого плеча хромосоми 5"]},"zh":{"name":"5号染色体长臂部分三体","synonyms":["5号染色体长臂部分重复"]},"tr":{"name":"5. kromozomun uzun kolunun kısmi trizomisi","synonyms":["5q kromozomunun kısmi trizomisi","5q kromozomunun kısmi duplikasyonu","5. kromozomun uzun kolunun kısmi duplikasyonu"]}},"xrefs":[{"source":"ICD-11","code":"LD41.40","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"722703441"},{"source":"MONDO","code":"0016956","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16956","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518494","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262211,"name":"Partial duplication/triplication of chromosome 5 syndrome","classifications":[147,156]}],"children":[{"orpha":228415,"name":"5q35 microduplication syndrome","type":"Malformation syndrome"},{"orpha":99027,"name":"Adult-onset autosomal dominant leukodystrophy","type":"Disease"},{"orpha":96097,"name":"Distal duplication 5q syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}