{"orpha":262628,"name":"Partial duplication of chromosome 6 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial trisomy of chromosome 6"],"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-262628/","orphanet_url":"https://www.orpha.net/en/disease/detail/262628","names":{"fr":{"name":"Syndrome de duplication partielle du chromosome 6","synonyms":["Trisomie partielle du chromosome 6"]},"de":{"name":"Chromosom 6-Duplikation, partielle","synonyms":["Partielle Trisomie des Chromosoms 6"]},"es":{"name":"Síndrome de duplicación parcial del cromosoma 6","synonyms":["Trisomía parcial del cromosoma 6"]},"it":{"name":"Sindrome duplicazione parziale del cromosoma 6","synonyms":["Trisomia parziale del cromosoma 6"]},"nl":{"name":"Partiële duplicatie van chromosoom 6-syndroom","synonyms":["Partiële trisomie van chromosoom 6"]},"pt":{"name":"Trissomia parcial do cromossoma 6"},"pl":{"name":"Zespół częściowej duplikacji chromosomu 6","synonyms":["Częściowa trisomia chromosomu 6"]},"cs":{"name":"Parciální duplikace chromozomu 6","synonyms":["Parciální trizomie chromozomu 6"]},"uk":{"name":"Часткова дуплікація хромосоми 6","synonyms":["Часткова трисомія хромосоми 6"]},"zh":{"name":"6号染色体部分重复","synonyms":["6号染色体部分三体"]},"tr":{"name":"6. kromozomun kısmi duplikasyonu","synonyms":["6. kromozomun kısmi trizomisi"]}},"xrefs":[{"source":"MONDO","code":"0016927","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16927","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518495","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":262878,"name":"Partial duplication of the long arm of chromosome 6 syndrome","type":"Category"},{"orpha":262740,"name":"Partial duplication of the short arm of chromosome 6 syndrome","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}