{"orpha":262941,"name":"Partial duplication of the long arm of chromosome 14 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial duplication of chromosome 14q","Partial trisomy of chromosome 14q","Partial trisomy of the long arm of chromosome 14"],"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-262941/","orphanet_url":"https://www.orpha.net/en/disease/detail/262941","names":{"fr":{"name":"Syndrome de duplication partielle du bras long du chromosome 14","synonyms":["Duplication partielle du chromosome 14q","Trisomie partielle du bras long du chromosome 14","Trisomie partielle du chromosome 14q"]},"de":{"name":"Chromosom 14, partielle Duplikation des langen Arms","synonyms":["Chromosom 14q-Duplikation, partielle","Partielle Duplikation 14q","Partielle Trisomie des langen Arms von Chromosom 14"]},"es":{"name":"Síndrome de duplicación parcial del brazo largo del cromosoma 14","synonyms":["Duplicación parcial del cromosoma 14q","Trisomía parcial del brazo largo del cromosoma 14","Trisomía parcial del cromosoma 14q"]},"it":{"name":"Sindrome duplicazione parziale del braccio lungo del cromosoma 14","synonyms":["Duplicazione parziale del cromosoma 14q","Trisomia parziale del braccio lungo del cromosoma 14","Trisomia parziale del cromosoma 14q"]},"nl":{"name":"Partiële trisomie van de lange arm van chromosoom 14-syndroom","synonyms":["Partiële duplicatie van chromosoom 14q","Partiële trisomie van chromosoom 14q","Partiële trisomie van de lange arm van chromosoom 14"]},"pt":{"name":"Trissomia parcial do braço longo do cromossoma 14"},"pl":{"name":"Zespół częściowej duplikacji długiego ramienia chromosomu 14","synonyms":["Częściowa duplikacja chromosomu 14q","Częściowa trisomia chromosomu 14q","Częściowa trisomia długiego ramienia chromosomu 14"]},"cs":{"name":"Parciální duplikace dlouhého raménka chromozomu 14","synonyms":["Parciální duplikace 14q","Parciální trizomie 14q","Parciální trizomie dlouhého raménka chromozomu 14"]},"uk":{"name":"Часткова дуплікація довгого плеча хромосоми 14","synonyms":["Часткова дуплікація хромосоми 14q","Часткова трисомія хромосоми 14q","Часткова трисомія довгого плеча хромосоми 14"]},"zh":{"name":"14号染色体长臂部分重复","synonyms":["14号染色体长臂部分三体"]},"tr":{"name":"14. kromozomun uzun kolunun kısmi duplikasyonu","synonyms":["14q kromozomunun kısmi trizomisi","14q kromozomunun kısmi duplikasyonu","14. Kromozomun uzun kolunun kısmi trizomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD41.D","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1313836743"},{"source":"MONDO","code":"0016964","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16964","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679704","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":261229,"name":"14q11.2 microduplication syndrome","type":"Malformation syndrome"},{"orpha":488280,"name":"14q32 duplication syndrome","type":"Disease"},{"orpha":1705,"name":"Distal duplication 14q syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"27286879[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27286879[PMID]"}],"phenotypes":null}