{"orpha":262776,"name":"Partial duplication of the short arm of chromosome 10 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial duplication of chromosome 10p","Partial trisomy of chromosome 10p","Partial trisomy of the short arm of chromosome 10"],"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-262776/","orphanet_url":"https://www.orpha.net/en/disease/detail/262776","names":{"fr":{"name":"Syndrome de duplication partielle du bras court du chromosome 10","synonyms":["Duplication partielle du chromosome 10p","Trisomie partielle du bras court du chromosome 10","Trisomie partielle du chromosome 10p"]},"de":{"name":"Chromosom 10, partielle Duplikation des kurzen Arms","synonyms":["Chromosom 10p-Duplikation, partielle","Partielle Trisomie 10p","Partielle Trisomie des kurzen Arms von Chromosom 10"]},"es":{"name":"Síndrome de duplicación parcial del brazo corto del cromosoma 10","synonyms":["Duplicación parcial del cromosoma 10p","Trisomía parcial del brazo corto del cromosoma 10","Trisomía parcial del cromosoma 10p"]},"it":{"name":"Sindrome duplicazione parziale del braccio corto del cromosoma 10","synonyms":["Duplicazione parziale del cromosoma 10p","Trisomia parziale del braccio corto del cromosoma 10","Trisomia parziale del cromosoma 10p"]},"nl":{"name":"Partiële duplicatie van de korte arm van chromosoom 10-syndroom","synonyms":["Partiële duplicatie van chromosoom 10p","Partiële trisomie van chromosoom 10p","Partiële trisomie van de korte arm van chromosoom 10"]},"pt":{"name":"Trissomia parcial do braço curto do cromossoma 10"},"pl":{"name":"Zespół częściowej duplikacji krótkiego ramienia chromosomu 10","synonyms":["Częściowa duplikacja chromosomu 10p","Częściowa trisomia chromosomu 10p","Częściowa trisomia krótkiego ramienia chromosomu 10"]},"cs":{"name":"Parciální duplikace krátkého raménka chromozomu 10","synonyms":["Parciální duplikace 10p","Parciální trizomie 10p","Parciální trizomie krátkého raménka chromozomu 10"]},"uk":{"name":"Часткова дуплікація короткого плеча хромосоми 10","synonyms":["Часткова дуплікація хромосоми 10p","Часткова трисомія хромосоми 10р","Часткова трисомія короткого плеча хромосоми 10"]},"zh":{"name":"10号染色体短臂部分重复","synonyms":["10号染色体短臂部分重复"]},"tr":{"name":"10. kromozomun kısa kolunun kısmi duplikasyonu","synonyms":["10p kromozomunun kısmi trizomisi","10p kromozomunun kısmi duplikasyonu","10. kromozomun kısa kolunun kısmi trizomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD41.91","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1720386511"},{"source":"MONDO","code":"0016947","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16947","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679712","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262648,"name":"Partial duplication of chromosome 10 syndrome","classifications":[147,156]}],"children":[{"orpha":171929,"name":"Trisomy 10p syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}