{"orpha":262812,"name":"Partial duplication/triplication of the short arm of chromosome 18 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial duplication/triplication of chromosome 18p","Partial trisomy/tetrasomy of chromosome 18p","Partial trisomy/tetrasomy of the short arm 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-262812/","orphanet_url":"https://www.orpha.net/en/disease/detail/262812","names":{"fr":{"name":"Syndrome de duplication/triplication partielle du bras court du chromosome 18","synonyms":["Duplication/triplication partielle du chromosome 18p","Trisomie/tétrasomie partielle du bras court du chromosome 18","Trisomie/tétrasomie partielle du chromosome 18p"]},"de":{"name":"Partielle Duplikation/Triplikation des kurzen Arms von Chromosom 18","synonyms":["Chromosom 18q-Duplikation/Triplikation, partielle","Partielle Duplikation/Triplikation des kurzen Arms von Chromosom 18"]},"es":{"name":"Síndrome de duplicación/triplicación parcial del brazo corto del cromosoma 18","synonyms":["Duplicación/triplicación parcial del cromosoma 18p","Trisomía/tetrasomía parcial del brazo corto del cromosoma 18","Trisomía/tetrasomía parcial del cromosoma 18p"]},"it":{"name":"Sindrome duplicazione/triplicazione parziale del braccio corto del cromosoma 18","synonyms":["Trisomia/tetrasomia parziale del braccio corto del cromosoma 18","Duplicazione/triplicazione parziale del cromosoma 18p","Trisomia/tetrasomia parziale del cromosoma 18p"]},"nl":{"name":"Partiële duplicatie/triplicatie van de korte arm van chromosoom 18-syndroom","synonyms":["Partiële duplicatie/triplicatie van chromosoom 18p","Partiële trisomie/tetrasomie van chromosoom 18p","Partiële trisomie/tetrasomie van de korte arm van chromosoom 18"]},"pt":{"name":"Duplicação/triplicação parcial do braço curto do cromossoma 18","synonyms":["Duplicação/triplicação parcial do cromossoma 18p","Trissomia/tetrasomia parcial do braço curto do cromossoma 18","Trissomia/tetrasomia parcial do cromossoma 18p"]},"pl":{"name":"Zespół częściowej duplikacji/triplikacji krótkiego ramienia chromosomu 18","synonyms":["Częściowa duplikacja/triplikacja chromosomu 18p","Częściowa duplikacja/triplikacja krótkiego ramienia chromosomu 18","Częściowa trisomia/tetrasomia chromosomu 18p"]},"cs":{"name":"Parciální trizomie/tetrazomie krátkého raménka chromozomu 18","synonyms":["Parciální duplikace/triplikace 18p","Parciální duplikace/triplikace krátkého raménka chromozomu 18","Parciální trizomie/tetrazomie 18p"]},"uk":{"name":"Часткова дуплікація/триплікація короткого плеча хромосоми 18","synonyms":["Часткова дуплікація/триплікація хромосоми 18p","Часткова трисомія/тетрасомія хромосоми 18р","Часткова трисомія/тетрасомія короткого плеча хромосоми 18"]},"zh":{"name":"18号染色体短臂部分三体/四体","synonyms":["18号染色体短臂部分重复/三体"]},"tr":{"name":"18. kromozomun kısa kolunda kısmi trizomi / tetrazomi","synonyms":["18p kromozomunun kısmi trizomi/tetrazomisi","18p kromozomunun kısmi duplikasyonu/triplikasyonu","18. kromozomun kısa kolunun kısmi duplikasyonu/triplikasyonu"]}},"xrefs":[{"source":"MONDO","code":"0016951","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16951","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679715","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262682,"name":"Partial duplication/triplication of chromosome 18 syndrome","classifications":[147,156]}],"children":[{"orpha":3307,"name":"Tetrasomy 18p syndrome","type":"Malformation syndrome"},{"orpha":1715,"name":"Trisomy 18p syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}