{"orpha":447985,"name":"Partial duplication of the short arm of chromosome 19 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial duplication of chromosome 19p","Partial trisomy of chromosome 19p","Partial trisomy of the short 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-447985/","orphanet_url":"https://www.orpha.net/en/disease/detail/447985","names":{"fr":{"name":"Syndrome de duplication partielle du bras court du chromosome 19","synonyms":["Duplication partielle du chromosome 19p","Trisomie partielle du bras court du chromosome 19","Trisomie partielle du chromosome 19p"]},"de":{"name":"Chromosom 19, partielle Duplikation des kurzen Arms","synonyms":["Chromosom 19p-Duplikation, partielle","Partielle Trisomie des Chromosoms 19p"]},"es":{"name":"Síndrome de duplicación parcial del brazo corto del cromosoma 19","synonyms":["Duplicación parcial del cromosoma 19p","Trisomía parcial del brazo corto del cromosoma 19","Trisomía parcial del cromosoma 19p"]},"it":{"name":"Sindrome duplicazione parziale del braccio corto del cromosoma 19","synonyms":["Duplicazione parziale del cromosoma 19p","Trisomia parziale del braccio corto del cromosoma 19","Trisomia parziale del cromosoma 19p"]},"nl":{"name":"Partiële duplicatie van de korte arm van chromosoom 19-syndroom","synonyms":["Partiële duplicatie van chromosoom 19p","Partiële trisomie van chromosoom 19p","Partiële trisomie van de korte arm van chromosoom 19"]},"pt":{"name":"Duplicação parcial do braço curto do cromossomo 19"},"pl":{"name":"Zespół częściowej duplikacji krótkiego ramienia chromosomu 19","synonyms":["Częściowa duplikacja chromosomu 19p","Częściowa trisomia chromosomu 19p","Częściowa trisomia krótkiego ramienia chromosomu 19p"]},"cs":{"name":"Částečná duplikace krátkého raménka chromozomu 19","synonyms":["Parciální trizomie krátkého raménka chromozomu 19","Částečná duplikace chromozomu 19p","Částečná trizomie chromozomu 19p"]},"uk":{"name":"Часткова дуплікація короткого плеча хромосоми 19","synonyms":["Часткова дуплікація хромосоми 19p","Часткова трисомія хромосоми 19р","Часткова трисомія короткого плеча хромосоми 19"]},"zh":{"name":"19号染色体短臂部分重复","synonyms":["19号染色体短臂部分三体"]},"tr":{"name":"19. kromozomun kısa kolunun kısmi duplikasyonu","synonyms":["19p kromozomunun kısmi trizomisi","19p kromozomunun kısmi duplikasyonu","19. kromozomun kısa kolunun kısmi trizomisi"]}},"xrefs":[{"source":"MONDO","code":"0018659","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18659","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518508","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":447980,"name":"19p13.3 microduplication syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}