{"orpha":263783,"name":"Partial duplication of the long arm of chromosome X syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial duplication of chromosome Xq","Partial trisomy of chromosome Xq","Partial trisomy of the long 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-263783/","orphanet_url":"https://www.orpha.net/en/disease/detail/263783","names":{"fr":{"name":"Syndrome de duplication partielle du bras long du chromosome x","synonyms":["Duplication partielle du chromosome Xq","Trisomie partielle du bras long du chromosome X"]},"de":{"name":"Chromosom X, partielle Duplikation des langen Arms","synonyms":["Chromosom Xq-Duplikation, partielle","Partielle Trisomie Xq","Partielle Trisomie des langen Arms von Chromosom X"]},"es":{"name":"Síndrome de duplicación parcial del brazo largo del cromosoma X","synonyms":["Duplicación parcial del cromosoma Xq","Trisomía parcial del brazo largo del cromosoma X","Trisomía parcial del cromosoma Xq"]},"it":{"name":"Sindrome duplicazione parziale del braccio lungo del cromosoma X","synonyms":["Duplicazione parziale del cromosoma Xq","Trisomia parziale del braccio lungo del cromosoma X","Trisomia parziale del cromosoma Xq"]},"nl":{"name":"Partiële duplicatie van de lange arm van chromosoom 14-syndroom","synonyms":["Partiële duplicatie van chromosoom Xq","Partiële trisomie van chromosoom Xq","Partiële trisomie van de lange arm van chromosoom X"]},"pt":{"name":"Duplicação parcial do braço longo do cromossoma X"},"pl":{"name":"Zespół częściowej duplikacji długiego ramienia chromosomu X","synonyms":["Częściowa duplikacja chromosomu Xq","Częściowa duplikacja chromosomu Xq","Częściowa trisomia długiego ramienia chromosomu X"]},"cs":{"name":"Parciální duplikace dlouhého raménka chromozomu X","synonyms":["Parciální duplikace chromozomu Xq","Parciální trizomie chromozomu Xq","Parciální trizomie dlouhého raménka chromozomu X"]},"uk":{"name":"Часткова дуплікація довгого плеча хромосоми Х","synonyms":["Часткова дуплікація хромосоми Xq","Часткова трисомія хромосоми Xq","Часткова трисомія довгого плеча хромосоми Х"]},"zh":{"name":"X染色体长臂部分重复","synonyms":["X染色体长臂部分三体"]},"tr":{"name":"X kromozomunun uzun kolunun kısmi duplikasyonu","synonyms":["Kromozom Xq nin kısmi trizomisi","Kromozom Xq nun kısmi duplikasyonu","Kromozom X in uzun kolunun kısmi trizomisi"]}},"xrefs":[{"source":"MONDO","code":"0017010","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17010","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679685","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":293939,"name":"Distal Xq28 microduplication syndrome","type":"Malformation syndrome"},{"orpha":1762,"name":"Proximal Xq28 duplication syndrome","type":"Malformation syndrome"},{"orpha":314389,"name":"Xq12-q13.3 duplication syndrome","type":"Malformation syndrome"},{"orpha":521258,"name":"Xq25 microduplication syndrome","type":"Malformation syndrome"},{"orpha":261483,"name":"Xq27.3q28 duplication syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}