{"orpha":262677,"name":"Partial duplication of chromosome 17 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial trisomy 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-262677/","orphanet_url":"https://www.orpha.net/en/disease/detail/262677","names":{"fr":{"name":"Syndrome de duplication partielle du chromosome 17","synonyms":["Trisomie partielle du chromosome 17"]},"de":{"name":"Chromosom 17-Duplikation, partielle","synonyms":["Partielle Trisomie des Chromosoms 17"]},"es":{"name":"Síndrome de duplicación parcial del cromosoma 17","synonyms":["Trisomía parcial del cromosoma 17"]},"it":{"name":"Sindrome duplicazione parziale del cromosoma 17","synonyms":["Trisomia parziale del cromosoma 17"]},"nl":{"name":"Partiële duplicatie van chromosoom 17-syndroom","synonyms":["Partiële trisomie van chromosoom 17"]},"pt":{"name":"Trissomia parcial do cromossoma 17"},"pl":{"name":"Zespół częściowej duplikacji chromosomu 17","synonyms":["Częściowa trisomia chromosomu 17"]},"cs":{"name":"Parciální duplikace chromozomu 17","synonyms":["Parciální trizomie chromozomu 17"]},"uk":{"name":"Часткова дуплікація хромосоми 17","synonyms":["Часткова трисомія хромосоми 17"]},"zh":{"name":"17号染色体部分重复","synonyms":["17号染色体部分三体"]},"tr":{"name":"17. kromozomun kısmi duplikasyonu","synonyms":["17. kromozomun kısmi trizomisi"]}},"xrefs":[{"source":"MONDO","code":"0016935","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16935","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518505","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98132,"name":"Partial autosomal duplication/triplication syndrome","classifications":[147,156]}],"children":[{"orpha":262968,"name":"Partial duplication of the long arm of chromosome 17 syndrome","type":"Category"},{"orpha":262803,"name":"Partial duplication of the short arm of chromosome 17 syndrome","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}