{"orpha":263768,"name":"Partial duplication of chromosome X syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial trisomy of chromosome X"],"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-263768/","orphanet_url":"https://www.orpha.net/en/disease/detail/263768","names":{"fr":{"name":"Syndrome de duplication partielle du chromosome x","synonyms":["Trisomie partielle du chromosome X"]},"de":{"name":"Chromosom X-Duplikation, partielle","synonyms":["Partielle Trisomie des Chromosom X"]},"es":{"name":"Síndrome de duplicación parcial del cromosoma X","synonyms":["Trisomía parcial del cromosoma X"]},"it":{"name":"Sindrome duplicazione parziale del cromosoma X","synonyms":["Trisomia parziale del cromosoma X"]},"nl":{"name":"Partiële duplicatie van chromosoom X-syndroom","synonyms":["Partiële trisomie van chromosoom X"]},"pt":{"name":"Duplicação parcial do cromossoma X"},"pl":{"name":"Zespół częściowej duplikacji chromosomu X","synonyms":["Częściowa trisomia chromosomu X"]},"cs":{"name":"Parciální duplikace chromozomu X","synonyms":["Parciální trizomie chromozomu X"]},"uk":{"name":"Часткова дуплікація хромосоми Х","synonyms":["Часткова трисомія хромосоми Х"]},"zh":{"name":"X染色体部分重复","synonyms":["X染色体部分三体"]},"tr":{"name":"X kromozomunun kısmi duplikasyonu","synonyms":["Kromozom X in kısmi trizomisi"]}},"xrefs":[{"source":"MONDO","code":"0017008","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17008","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679687","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98159,"name":"Chromosome X structural anomaly syndrome","classifications":[147,156]}],"children":[{"orpha":263783,"name":"Partial duplication of the long arm of chromosome X syndrome","type":"Category"},{"orpha":263775,"name":"Partial duplication of the short arm of chromosome X syndrome","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}