{"orpha":262658,"name":"Partial duplication/triplication of the short arm of chromosome 12 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial duplication/triplication of chromosome 12p","Partial trisomy/tetrasomy of chromosome 12p","Partial trisomy/tetrasomy of the short arm of chromosome 12"],"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-262658/","orphanet_url":"https://www.orpha.net/en/disease/detail/262658","names":{"fr":{"name":"Syndrome de duplication/triplication partielle du bras court du chromosome 12","synonyms":["Duplication/triplication partielle du chromosome 12p","Trisomie/tétrasomie partielle du bras court du chromosome 12","Trisomie/tétrasomie partielle du chromosome 12p"]},"de":{"name":"Partielle Duplikation/Triplikation des kurzen Arms von Chromosom 12","synonyms":["Partielle Duplikation/Triplikation von Chromosom 12p","Partielle Trisomie/Tetrasomie 12p"]},"es":{"name":"Síndrome de duplicación/triplicación parcial del brazo corto del cromosoma 12","synonyms":["Duplicación/triplicación parcial del cromosoma 12p","Trisomía/tetrasomía parcial del brazo corto del cromosoma 12","Trisomía/tetrasomía parcial del cromosoma 12p"]},"it":{"name":"Sindrome duplicazione/triplicazione parziale del braccio corto del cromosoma 12","synonyms":["Trisomia/tetrasomia parziale del braccio corto del cromosoma 12","Duplicazione/triplicazione parziale del cromosoma 12p","Trisomia/tetrasomia parziale del cromosoma 12p"]},"nl":{"name":"Partiële duplicatie/triplicatie van de korte arm van chromosoom 12-syndroom","synonyms":["Partiële duplicatie/triplicatie van chromosoom 12p","Partiële trisomie/tetrasomie van chromosoom 12p","Partiële trisomie/tetrasomie van de korte arm van chromosoom 12"]},"pt":{"name":"Duplicação/triplicação parcial do braço curto do cromossoma 12","synonyms":["Duplicação/triplicação parcial do cromossoma 12","Trissomia/tetrasomia parcial do braço curto do cromossoma 12","Trissomia/tetrasomia parcial do cromossoma 12p"]},"pl":{"name":"Zespół częściowej duplikacji/triplikacji krótkiego ramienia chromosomu 12","synonyms":["Częściowa duplikacja/triplikacja chromosomu 12p","Częściowa duplikacja/triplikacja krótkiego ramienia chromosomu 12","Częściowa trisomia/tetrasomia chromosomu 12p"]},"cs":{"name":"Parciální trizomie/tetrazomie krátkého raménka chromozomu 12","synonyms":["Parciální duplikace/triplikace 12p","Parciální duplikace/triplikace krátkého raménka chromozomu 12","Parciální trizomie/tetrazomie 12p"]},"uk":{"name":"Часткова дуплікація/триплікація короткого плеча хромосоми 12","synonyms":["Часткова дуплікація/триплікація хромосоми 12p","Часткова трисомія/тетрасомія хромосоми 12р","Часткова трисомія/тетрасомія короткого плеча хромосоми 12"]},"zh":{"name":"12号染色体短臂部分三体/四体","synonyms":["12号染色体短臂部分重复/三体"]},"tr":{"name":"12. kromozomun kısa kolunun kısmi trizomisi / tetrazomisi","synonyms":["12p kromozomunun kısmi trizomi/tetrasomisi","12p kromozomunun kısmi duplikasyonu/triplikasyonu","12. kromozomun kısa kolunun kısmi duplikasyonu/triplikasyonu"]}},"xrefs":[{"source":"MONDO","code":"0016933","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16933","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679724","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":884,"name":"Pallister-Killian syndrome","type":"Malformation syndrome"},{"orpha":1699,"name":"Trisomy 12p syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}