{"orpha":262682,"name":"Partial duplication/triplication of chromosome 18 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial trisomy/tetrasomy of chromosome 18"],"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-262682/","orphanet_url":"https://www.orpha.net/en/disease/detail/262682","names":{"fr":{"name":"Syndrome de duplication/triplication partielle du chromosome 18","synonyms":["Trisomie/tétrasomie partielle du chromosome 18"]},"de":{"name":"Partielle Trisomie/Tetrasomie von Chromosom 18","synonyms":["Chromosom 18-Duplikation, partielle"]},"es":{"name":"Síndrome de duplicación/triplicación parcial del cromosoma 18","synonyms":["Trisomía/tetrasomía parcial del cromosoma 18"]},"it":{"name":"Sindrome duplicazione/triplicazione parziale del cromosoma 18","synonyms":["Trisomia/tetrasomia parziale del cromosoma 18"]},"nl":{"name":"Partiële duplicatie/triplicatie van chromosoom 18-syndroom","synonyms":["Partiële trisomie/tetrasomie van chromosoom 18"]},"pt":{"name":"Duplicação/triplicação parcial do cromossoma 18","synonyms":["Trissomia/tetrasomia parcial do cromossoma 18"]},"pl":{"name":"Zespół częściowej duplikacji/triplikacji chromosomu 18","synonyms":["Częściowa duplikacja/triplikacja chromosomu 18"]},"cs":{"name":"Parciální trizomie/tetrazomie chromozomu 18","synonyms":["Parciální duplikace/triplikace chromozomu 18"]},"uk":{"name":"Часткова дуплікація/триплікація хромосоми 18","synonyms":["Часткова трисомія/тетрасомія хромосоми 18"]},"zh":{"name":"18号染色体部分三体/四体","synonyms":["18号染色体部分重复/三体"]},"tr":{"name":"18. kromozomun kısmi trizomisi / tetrazomisi","synonyms":["Kromozom 18'in kısmi duplikasyonu/triplikasyonu"]}},"xrefs":[{"source":"MONDO","code":"0016936","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16936","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5816684","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":262977,"name":"Partial duplication of the long arm of chromosome 18 syndrome","type":"Category"},{"orpha":262812,"name":"Partial duplication/triplication of the short arm of chromosome 18 syndrome","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}