{"orpha":263775,"name":"Partial duplication of the short arm of chromosome X syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial duplication of chromosome Xp","Partial trisomy of chromosome Xp","Partial trisomy of the short arm 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-263775/","orphanet_url":"https://www.orpha.net/en/disease/detail/263775","names":{"fr":{"name":"Syndrome de duplication partielle du bras court du chromosome x","synonyms":["Duplication partielle du chromosome Xp","Trisomie partielle du bras court du chromosome X","Trisomie partielle du chromosome Xp"]},"de":{"name":"Chromosom X, partielle Duplikation des kurzen Arms","synonyms":["Chromosom Xp-Duplikation, partielle","Partielle Duplikation Xp","Partielle Trisomie des kurzen Arms von Chromosom X"]},"es":{"name":"Síndrome de duplicación parcial del brazo corto del cromosoma X","synonyms":["Duplicación parcial del cromosoma Xp","Trisomía parcial del brazo corto del cromosoma X","Trisomía parcial del cromosoma Xp"]},"it":{"name":"Sindrome duplicazione parziale del braccio corto del cromosoma X","synonyms":["Duplicazione parziale del cromosoma Xp","Trisomia parziale del braccio corto del cromosoma X","Trisomia parziale del cromosoma Xp"]},"nl":{"name":"Partiële duplicatie van de korte arm van chromosoom X-syndroom","synonyms":["Partiële duplicatie van chromosoom Xp","Partiële trisomie van chromosoom Xp","Partiële trisomie van de korte arm van chromosoom X"]},"pt":{"name":"Duplicação parcial do braço curto do cromossoma X"},"pl":{"name":"Zespół częściowej duplikacji krótkiego ramienia chromosomu X","synonyms":["Częściowa duplikacja chromosomu Xp","Częściowa trisomia chromosomu Xp","Częściowa trisomia krótkiego ramienia chromosomu X"]},"cs":{"name":"Parciální duplikace krátkého raménka chromozomu X","synonyms":["Parciální duplikace Xp","Parciální trizomie Xp","Parciální trizomie krátkého raménka chromozomu X"]},"uk":{"name":"Часткова дуплікація короткого плеча хромосоми Х","synonyms":["Часткова дуплікація хромосоми Xp","Часткова трисомія хромосоми Xp","Часткова трисомія короткого плеча хромосоми Х"]},"zh":{"name":"X染色体短臂部分重复","synonyms":["X染色体短臂部分三体"]},"tr":{"name":"X kromozomunun kısa kolunun kısmi duplikasyonu","synonyms":["Kromozom Xp nin kısmi trizomisi","Kromozom Xp nin kısmi duplikasyonu","Kromozom X in kısa kolunun kısmi trizomisi"]}},"xrefs":[{"source":"MONDO","code":"0017009","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17009","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679686","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12421","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":263768,"name":"Partial duplication of chromosome X syndrome","classifications":[147,156]}],"children":[{"orpha":217377,"name":"Microduplication Xp11.22p11.23 syndrome","type":"Malformation syndrome"},{"orpha":284180,"name":"Xp22.13p22.2 duplication syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}