{"orpha":262968,"name":"Partial duplication of the long arm of chromosome 17 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial duplication of chromosome 17q","Partial trisomy of chromosome 17q","Partial trisomy of the long arm of chromosome 17"],"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-262968/","orphanet_url":"https://www.orpha.net/en/disease/detail/262968","names":{"fr":{"name":"Syndrome de duplication partielle du bras long du chromosome 17","synonyms":["Duplication partielle du chromosome 17q","Trisomie partielle du bras long du chromosome 17","Trisomie partielle du chromosome 17q"]},"de":{"name":"Chromosom 17, partielle Duplikation des langen Arms","synonyms":["Chromosom 17q-Duplikation, partielle","Partielle Duplikation 17q","Partielle Trisomie des langen Arms von Chromosom 17"]},"es":{"name":"Síndrome de duplicación parcial del brazo largo del cromosoma 17","synonyms":["Duplicación parcial del cromosoma 17q","Trisomía parcial del brazo largo del cromosoma 17","Trisomía parcial del cromosoma 17q"]},"it":{"name":"Sindrome duplicazione parziale del braccio lungo del cromosoma 17","synonyms":["Duplicazione parziale del cromosoma 17q","Trisomia parziale del braccio lungo del cromosoma 17","Trisomia parziale del cromosoma 17q"]},"nl":{"name":"Partiële trisomie van de lange arm van chromosoom 17-syndroom","synonyms":["Partiële duplicatie van chromosoom 17q","Partiële trisomie van chromosoom 17q","Partiële trisomie van de lange arm van chromosoom 17"]},"pt":{"name":"Trissomia parcial do braço longo do cromossoma 17"},"pl":{"name":"Zespół częściowej duplikacji długiego ramienia chromosomu 17","synonyms":["Częściowa duplikacja chromosomu 17q","Częściowa trisomia chromosomu 17q","Częściowa trisomia długiego ramienia chromosomu 17"]},"cs":{"name":"Parciální duplikace dlouhého raménka chromozomu 17","synonyms":["Parciální duplikace 17q","Parciální trizomie 17q","Parciální trizomie dlouhého raménka chromozomu 17"]},"uk":{"name":"Часткова дуплікація довгого плеча хромосоми 17","synonyms":["Часткова дуплікація хромосоми 17q","Часткова трисомія хромосоми 17q","Часткова трисомія довгого плеча хромосоми 17"]},"zh":{"name":"17号染色体长臂部分重复","synonyms":["17号染色体长臂部分三体"]},"tr":{"name":"17. kromozomun uzun kolunun kısmi duplikasyonu","synonyms":["17q kromozomunun kısmi trizomisi","17q kromozomunun kısmi duplikasyonu","17. Kromozomun uzun kolunun kısmi trizomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD41.G0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1871996278"},{"source":"MONDO","code":"0016967","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16967","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679698","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262677,"name":"Partial duplication of chromosome 17 syndrome","classifications":[147,156]}],"children":[{"orpha":139474,"name":"17q11.2 microduplication syndrome","type":"Malformation syndrome"},{"orpha":261272,"name":"17q12 microduplication syndrome","type":"Malformation syndrome"},{"orpha":217340,"name":"17q21.31 microduplication syndrome","type":"Malformation syndrome"},{"orpha":3379,"name":"Distal duplication 17q syndrome","type":"Malformation syndrome"},{"orpha":238578,"name":"Familial clubfoot due to 17q23.1q23.2 microduplication","type":"Etiological subtype"},{"orpha":477817,"name":"PMP22-RAI1 contiguous gene duplication syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}