{"orpha":262758,"name":"Partial duplication of the short arm of chromosome 8 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial duplication of chromosome 8p","Partial trisomy of chromosome 8p","Partial trisomy of the short arm of chromosome 8"],"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-262758/","orphanet_url":"https://www.orpha.net/en/disease/detail/262758","names":{"fr":{"name":"Syndrome de duplication partielle du bras court du chromosome 8","synonyms":["Duplication partielle du chromosome 8p","Trisomie partielle du bras court du chromosome 8","Trisomie partielle du chromosome 8p"]},"de":{"name":"Chromosom 8, partielle Duplikation des kurzen Arms","synonyms":["Chromosom 8p-Duplikation, partielle","Partielle Trisomie 8p","Partielle Trisomie des kurzen Arms von Chromosom 8"]},"es":{"name":"Síndrome de duplicación parcial del brazo corto del cromosoma 8","synonyms":["Duplicación parcial del cromosoma 8p","Trisomía parcial del brazo corto del cromosoma 8","Trisomía parcial del cromosoma 8p"]},"it":{"name":"Sindrome duplicazione parziale del braccio corto del cromosoma 8","synonyms":["Duplicazione parziale del cromosoma 8p","Trisomia parziale del braccio corto del cromosoma 8","Trisomia parziale del cromosoma 8p"]},"nl":{"name":"Partiële duplicatie van de korte arm van chromosoom 8-syndroom","synonyms":["Partiële duplicatie van chromosoom 8p","Partiële trisomie van chromosoom 8p","Partiële trisomie van de korte arm van chromosoom 8"]},"pt":{"name":"Trissomia parcial do braço curto do cromossoma 8"},"pl":{"name":"Zespół częściowej duplikacji krótkiego ramienia chromosomu 8","synonyms":["Częściowa duplikacja chromosomu 8p","Częściowa trisomia chromosomu 8p","Częściowa trisomia krótkiego ramienia chromosomu 8"]},"cs":{"name":"Parciální duplikace krátkého raménka chromozomu 8","synonyms":["Parciální duplikace 8p","Parciální trizomie 8p","Parciální trizomie krátkého raménka chromozomu 8"]},"uk":{"name":"Часткова дуплікація короткого плеча хромосоми 8","synonyms":["Часткова дуплікація хромосоми 8p","Часткова трисомія хромосоми 8р","Часткова трисомія короткого плеча хромосоми 8"]},"zh":{"name":"8号染色体短臂部分重复","synonyms":["8号染色体短臂部分重复"]},"tr":{"name":"8. kromozomun kısa kolunun kısmi duplikasyonu","synonyms":["8p kromozomunun kısmi trizomisi","8p kromozomunun kısmi duplikasyonu","8. kromozomun kısa kolunun kısmi trizomi"]}},"xrefs":[{"source":"ICD-11","code":"LD41.71","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1325415519"},{"source":"MONDO","code":"0016945","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16945","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4708597","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262638,"name":"Partial duplication of chromosome 8 syndrome","classifications":[147,156]}],"children":[{"orpha":251076,"name":"8p23.1 duplication syndrome","type":"Malformation syndrome"},{"orpha":264450,"name":"Trisomy 8p syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}