{"orpha":262692,"name":"Partial duplication of chromosome 20 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial trisomy of chromosome 20"],"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-262692/","orphanet_url":"https://www.orpha.net/en/disease/detail/262692","names":{"fr":{"name":"Syndrome de duplication partielle du chromosome 20","synonyms":["Trisomie partielle du chromosome 20"]},"de":{"name":"Partielle Duplikation von Chromosom 20"},"es":{"name":"Síndrome de duplicación parcial del cromosoma 20","synonyms":["Trisomía parcial del cromosoma 20"]},"it":{"name":"Sindrome duplicazione parziale del cromosoma 20","synonyms":["Trisomia parziale del cromosoma 20"]},"nl":{"name":"Partiële duplicatie van chromosoom 20-syndroom","synonyms":["Partiële trisomie van chromosoom 20"]},"pt":{"name":"Duplicação parcial do cromossoma 20","synonyms":["Trissomia parcial do cromossoma 20"]},"pl":{"name":"Zespół częściowej duplikacji chromosomu 20","synonyms":["Częściowa duplikacja chromosomu 20"]},"cs":{"name":"Parciální trizomie chromozomu 20","synonyms":["Parciální duplikace chromozomu 20"]},"uk":{"name":"Часткова дуплікація хромосоми 20","synonyms":["Часткова трисомія хромосоми 20"]},"zh":{"name":"20号染色体部分三体","synonyms":["20号染色体部分重复"]},"tr":{"name":"20. kromozomun kısmi trizomisi","synonyms":["20. kromozomun kısmi duplikasyonu"]}},"xrefs":[{"source":"MONDO","code":"0016938","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16938","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518509","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":262995,"name":"Partial duplication of the long arm of chromosome 20 syndrome","type":"Category"},{"orpha":261318,"name":"Trisomy 20p syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}