{"orpha":262725,"name":"Partial duplication/triplication of the short arm of chromosome 5 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial duplication/triplication of chromosome 5p","Partial trisomy/tetrasomy of chromosome 5p","Partial trisomy/tetrasomy of the short arm of chromosome 5"],"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-262725/","orphanet_url":"https://www.orpha.net/en/disease/detail/262725","names":{"fr":{"name":"Syndrome de duplication/triplication partielle du bras court du chromosome 5","synonyms":["Duplication/triplication partielle du chromosome 5p","Trisomie/tétrasomie partielle du bras court du chromosome 5","Trisomie/tétrasomie partielle du chromosome 5p"]},"de":{"name":"Partielle Duplikation/Triplikation des kurzen Arms von Chromosom 5","synonyms":["Chromosom 5q-Duplikation/Triplikation, partielle","Partielle Duplikation/Triplikation von Chromosom 5p"]},"es":{"name":"Síndrome de duplicación/triplicación parcial del brazo corto del cromosoma 5","synonyms":["Duplicación / triplicación parcial del brazo corto del cromosoma 5","Duplicación / triplicación parcial del cromosoma 5p","Trisomía / tetrasomía parcial del cromosoma 5p"]},"it":{"name":"Sindrome duplicazione/triplicazione parziale del braccio corto del cromosoma 5","synonyms":["Trisomia/tetrasomia parziale del braccio corto del cromosoma 5","Duplicazione/triplicazione parziale del cromosoma 5p","Trisomia/tetrasomia parziale del cromosoma 5p"]},"nl":{"name":"Partiële duplicatie/triplicatie van de korte arm van chromosoom 5-syndroom","synonyms":["Partiële duplicatie/triplicatie van chromosoom 5p","Partiële trisomie/tetrasomie van chromosoom 5p","Partiële trisomie/tetrasomie van de korte arm van chromosoom 5"]},"pt":{"name":"Duplicação/triplicação parcial do braço curto do cromossoma 5","synonyms":["Duplicação/triplicação parcial do cromossoma 5","Trissomia/tetrasomia parcial do braço curto do cromossoma 5","Trissomia/tetrasomia parcial do cromossoma 5"]},"pl":{"name":"Zespół częściowej duplikacji/triplikacji krótkiego ramienia chromosomu 5","synonyms":["Częściowa duplikacja/triplikacja chromosomu 5p","Częściowa duplikacja/triplikacja krótkiego ramienia chromosomu 5","Częściowa trisomia/tetrasomia chromosomu 5p"]},"cs":{"name":"Parciální trizomie/tetrazomie krátkého raménka chromozomu 5","synonyms":["Parciální duplikace/triplikace 5p","Parciální duplikace/triplikace krátkého raménka chromozomu 5","Parciální trizomie/tetrazomie 5p"]},"uk":{"name":"Часткова дуплікація/триплікація короткого плеча хромосоми 5","synonyms":["Часткова дуплікація/триплікація хромосоми 5p","Часткова трисомія/тетрасомія хромосоми 5р","Часткова трисомія/тетрасомія короткого плеча хромосоми 5"]},"zh":{"name":"5号染色体短臂部分三体/四体","synonyms":["5号染色体短臂部分重复/三体"]},"tr":{"name":"5. kromozomun kısa kolunun kısmi trizomi / tetrazomi","synonyms":["5p kromozomunun kısmi trizomi/tetrasomisi","5p kromozomunun kısmi duplikasyonu/triplikasyonu","5. kromozomun kısa kolunun kısmi duplikasyonu/triplikasyonu"]}},"xrefs":[{"source":"MONDO","code":"0016942","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16942","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679722","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262211,"name":"Partial duplication/triplication of chromosome 5 syndrome","classifications":[147,156]}],"children":[{"orpha":329802,"name":"5p13 microduplication syndrome","type":"Malformation syndrome"},{"orpha":3309,"name":"Tetrasomy 5p syndrome","type":"Malformation syndrome"},{"orpha":1742,"name":"Trisomy 5p syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}