{"orpha":98132,"name":"Partial autosomal duplication/triplication syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial autosomal trisomy/tetrasomy"],"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-98132/","orphanet_url":"https://www.orpha.net/en/disease/detail/98132","names":{"fr":{"name":"Syndrome de duplications/triplications partielles des autosomes","synonyms":["Trisomies/tétrasomies partielles des autosomes"]},"de":{"name":"Partielle autosomale Duplikation/Triplikation"},"es":{"name":"Síndrome de duplicación/triplicación parcial de autosomas","synonyms":["Trisomía/tetrasomía parcial de los autosomas"]},"it":{"name":"Sindrome triplicazione/duplicazione autosomica parziale","synonyms":["Trisomia/tetrasomia autosomica parziale"]},"nl":{"name":"Partiële autosomale duplicatie/triplicatie-syndroom","synonyms":["Partiële autosomale trisomie/tetrasomie"]},"pt":{"name":"Duplicação/triplicação autossómica parcial"},"pl":{"name":"Zespół częściowej trisomii/tetrasomii autosomalnej","synonyms":["Częściowa duplikacja/triplikacja autosomu"]},"cs":{"name":"Trizomie části autozomů","synonyms":["Partial autosomal trisomy/tetrasomy"]},"uk":{"name":"Часткова аутосомна дуплікація/триплікація","synonyms":["Часткова аутосомна трисомія/тетрасомія"]},"zh":{"name":"部分常染色体三体/四体"},"tr":{"name":"Kısmi otozomal trizomi / tetrazomi"}},"xrefs":[{"source":"UMLS","code":"C5816694","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98130,"name":"Autosomal trisomy syndrome","classifications":[147,156]}],"children":[{"orpha":262191,"name":"Partial duplication of chromosome 1 syndrome","type":"Category"},{"orpha":262648,"name":"Partial duplication of chromosome 10 syndrome","type":"Category"},{"orpha":262653,"name":"Partial duplication of chromosome 11 syndrome","type":"Category"},{"orpha":262672,"name":"Partial duplication of chromosome 16 syndrome","type":"Category"},{"orpha":262677,"name":"Partial duplication of chromosome 17 syndrome","type":"Category"},{"orpha":262687,"name":"Partial duplication of chromosome 19 syndrome","type":"Category"},{"orpha":262196,"name":"Partial duplication of chromosome 2 syndrome","type":"Category"},{"orpha":262692,"name":"Partial duplication of chromosome 20 syndrome","type":"Category"},{"orpha":262201,"name":"Partial duplication of chromosome 3 syndrome","type":"Category"},{"orpha":262206,"name":"Partial duplication of chromosome 4 syndrome","type":"Category"},{"orpha":262628,"name":"Partial duplication of chromosome 6 syndrome","type":"Category"},{"orpha":262633,"name":"Partial duplication of chromosome 7 syndrome","type":"Category"},{"orpha":262638,"name":"Partial duplication of chromosome 8 syndrome","type":"Category"},{"orpha":262932,"name":"Partial duplication of the long arm of chromosome 13 syndrome","type":"Category"},{"orpha":262941,"name":"Partial duplication of the long arm of chromosome 14 syndrome","type":"Category"},{"orpha":262950,"name":"Partial duplication of the long arm of chromosome 15 syndrome","type":"Category"},{"orpha":263004,"name":"Partial duplication of the long arm of chromosome 22 syndrome","type":"Category"},{"orpha":262682,"name":"Partial duplication/triplication of chromosome 18 syndrome","type":"Category"},{"orpha":262211,"name":"Partial duplication/triplication of chromosome 5 syndrome","type":"Category"},{"orpha":262643,"name":"Partial duplication/triplication of chromosome 9 syndrome","type":"Category"},{"orpha":262658,"name":"Partial duplication/triplication of the short arm of chromosome 12 syndrome","type":"Category"},{"orpha":717784,"name":"Partial trisomy 12q syndrome","type":"Malformation syndrome"},{"orpha":96055,"name":"Tetrasomy 21 syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}