{"orpha":262932,"name":"Partial duplication of the long arm of chromosome 13 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial duplication of chromosome 13q","Partial trisomy of chromosome 13q","Partial trisomy of the long arm of chromosome 13"],"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-262932/","orphanet_url":"https://www.orpha.net/en/disease/detail/262932","names":{"fr":{"name":"Syndrome de duplication partielle du bras long du chromosome 13","synonyms":["Duplication partielle du chromosome 13q","Trisomie partielle du bras long du chromosome 13","Trisomie partielle du chromosome 13q"]},"de":{"name":"Chromosom 13, partielle Duplikation des langen Arms","synonyms":["Chromosom 13q-Duplikation, partielle","Partielle Duplikation 13q","Partielle Trisomie des langen Arms von Chromosom 13"]},"es":{"name":"Síndrome de duplicación parcial del brazo largo del cromosoma 13","synonyms":["Duplicación parcial del cromosoma 13q","Trisomía parcial del brazo largo del cromosoma 13","Trisomía parcial del cromosoma 13q"]},"it":{"name":"Sindrome duplicazione parziale del braccio lungo del cromosoma 13","synonyms":["Duplicazione parziale del cromosoma 13q","Trisomia parziale del braccio lungo del cromosoma 13","Trisomia parziale del cromosoma 13q"]},"nl":{"name":"Partiële duplicatie van de lange arm van chromosoom 13-syndroom","synonyms":["Partiële duplicatie van chromosoom 13q","Partiële trisomie van chromosoom 13q","Partiële trisomie van de lange arm van chromosoom 13"]},"pt":{"name":"Trissomia parcial do braço longo do cromossoma 13"},"pl":{"name":"Zespół częściowej duplikacji długiego ramienia chromosomu 13","synonyms":["Częściowa duplikacja chromosomu 13q","Częściowa trisomia chromosomu 13q","Częściowa trisomia długiego ramienia chromosomu 13"]},"cs":{"name":"Parciální duplikace dlouhého raménka chromozomu 13","synonyms":["Parciální duplikace 13q","Parciální trizomie 13q","Parciální trizomie dlouhého raménka chromozomu 13"]},"uk":{"name":"Часткове дуплікація довгого плеча хромосоми 13","synonyms":["Часткова дуплікація хромосоми 13q","Часткова трисомія хромосоми 13q","Часткова трисомія довгого плеча хромосоми 13"]},"zh":{"name":"13号染色体长臂部分重复","synonyms":["13号染色体长臂部分三体"]},"tr":{"name":"13. kromozomun uzun kolunun kısmi duplikasyonu","synonyms":["13q kromozomunun kısmi trizomisi","13q kromozomunun kısmi duplikasyonu","13. Kromozomun uzun kolunun kısmi trizomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD41.C","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1045612388"},{"source":"MONDO","code":"0022177","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679705","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":96105,"name":"Distal duplication 13q syndrome","type":"Malformation syndrome"},{"orpha":1702,"name":"Non-distal duplication 13q syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}