{"orpha":262986,"name":"Partial duplication of the long arm of chromosome 19 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial duplication of chromosome 19q","Partial trisomy of chromosome 19q","Partial trisomy of the long arm of chromosome 19"],"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-262986/","orphanet_url":"https://www.orpha.net/en/disease/detail/262986","names":{"fr":{"name":"Syndrome de duplication partielle du bras long du chromosome 19","synonyms":["Duplication partielle du chromosome 19q","Trisomie partielle du bras long du chromosome 19","Trisomie partielle du chromosome 19q"]},"de":{"name":"Chromosom 19, partielle Duplikation des langen Arms","synonyms":["Chromosom 19q-Duplikation, partielle","Partielle Duplikation 19q","Partielle Trisomie des langen Arms von Chromosom 19"]},"es":{"name":"Síndrome de duplicación parcial del brazo largo del cromosoma 19","synonyms":["Duplicación parcial del cromosoma 19q","Trisomía parcial del brazo largo del cromosoma 19","Trisomía parcial del cromosoma 19q"]},"it":{"name":"Sindrome duplicazione parziale del braccio lungo del cromosoma 19","synonyms":["Duplicazione parziale del cromosoma 19q","Trisomia parziale del braccio lungo del cromosoma 19","Trisomia parziale del cromosoma 19q"]},"nl":{"name":"Partiële trisomie van de lange arm van chromosoom 19-syndroom","synonyms":["Partiële duplicatie van chromosoom 19q","Partiële trisomie van chromosoom 19q","Partiële trisomie van de lange arm van chromosoom 19"]},"pt":{"name":"Trissomia parcial do braço longo do cromossoma 19"},"pl":{"name":"Zespół częściowej duplikacji długiego ramienia chromosomu 19","synonyms":["Częściowa duplikacja chromosomu 19q","Częściowa trisomia chromosomu 19q","Częściowa trisomia długiego ramienia chromosomu 19"]},"cs":{"name":"Parciální duplikace dlouhého raménka chromozomu 19","synonyms":["Parciální duplikace 19q","Parciální trizomie 19q","Parciální trizomie dlouhého raménka chromozomu 19"]},"uk":{"name":"Часткова дуплікація довгого плеча хромосоми 19","synonyms":["Часткова дуплікація хромосоми 19q","Часткова трисомія хромосоми 19q","Часткова трисомія довгого плеча хромосоми 19"]},"zh":{"name":"19号染色体长臂部分重复","synonyms":["19号染色体长臂部分三体"]},"tr":{"name":"19. kromozomun uzun kolunun kısmi duplikasyonu","synonyms":["19q kromozomunun kısmi trizomisi","19q kromozomunun kısmi duplikasyonu","19. Kromozomun uzun kolunun kısmi trizomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD41.J0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1595108486"},{"source":"MONDO","code":"0016969","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16969","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679696","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262687,"name":"Partial duplication of chromosome 19 syndrome","classifications":[147,156]}],"children":[{"orpha":1717,"name":"Distal duplication 19q syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}