{"orpha":262794,"name":"Partial duplication of the short arm of chromosome 16 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial duplication of chromosome 16p","Partial trisomy of chromosome 16p","Partial trisomy of the short arm of chromosome 16"],"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-262794/","orphanet_url":"https://www.orpha.net/en/disease/detail/262794","names":{"fr":{"name":"Syndrome de duplication partielle du bras court du chromosome 16","synonyms":["Duplication partielle du chromosome 16p","Trisomie partielle du bras court du chromosome 16","Trisomie partielle du chromosome 16p"]},"de":{"name":"Chromosom 16, partielle Duplikation des kurzen Arms","synonyms":["Chromosom 16p-Duplikation, partielle","Partielle Trisomie 16p","Partielle Trisomie des kurzen Arms von Chromosom 16"]},"es":{"name":"Síndrome de duplicación parcial del brazo corto del cromosoma 16","synonyms":["Duplicación parcial del cromosoma 16p","Trisomía parcial del brazo corto del cromosoma 16","Trisomía parcial del cromosoma 16p"]},"it":{"name":"Sindrome duplicazione parziale del braccio corto del cromosoma 16","synonyms":["Duplicazione parziale del cromosoma 16p","Trisomia parziale del braccio corto del cromosoma 16","Trisomia parziale del cromosoma 16p"]},"nl":{"name":"Partiële duplicatie van de korte arm van chromosoom 16-syndroom","synonyms":["Partiële duplicatie van chromosoom 16p","Partiële trisomie van chromosoom 16p","Partiële trisomie van de korte arm van chromosoom 16"]},"pt":{"name":"Trissomia parcial do braço curto do cromossoma 16"},"pl":{"name":"Zespół częściowej duplikacji krótkiego ramienia chromosomu 16","synonyms":["Częściowa duplikacja chromosomu16p","Częściowa trisomia chromosomu 16p","Częściowa trisomia krótkiego ramienia chromosomu 16"]},"cs":{"name":"Parciální duplikace krátkého raménka chromozomu 16","synonyms":["Parciální duplikace 16p","Parciální trizomie 16p","Parciální trizomie krátkého raménka chromozomu 16"]},"uk":{"name":"Часткова дуплікація короткого плеча хромосоми 16","synonyms":["Часткова дуплікація хромосоми 16p","Часткова трисомія хромосоми 16р","Часткова трисомія короткого плеча хромосоми 16"]},"zh":{"name":"16号染色体短臂部分重复","synonyms":["16号染色体短臂部分重复"]},"tr":{"name":"16. kromozomun kısa kolunun kısmi duplikasyonu","synonyms":["16p kromozomunun kısmi trizomisi","16p kromozomunun kısmi duplikasyonu","16. kromozomun kısa kolunun kısmi trizomi"]}},"xrefs":[{"source":"ICD-11","code":"LD41.F1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"325064766"},{"source":"MONDO","code":"0016949","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16949","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5566360","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262672,"name":"Partial duplication of chromosome 16 syndrome","classifications":[147,156]}],"children":[{"orpha":261204,"name":"16p11.2p12.2 microduplication syndrome","type":"Malformation syndrome"},{"orpha":485405,"name":"16p12.1p12.3 triplication syndrome","type":"Malformation syndrome"},{"orpha":261243,"name":"16p13.11 microduplication syndrome","type":"Malformation syndrome"},{"orpha":96078,"name":"16p13.3 microduplication syndrome","type":"Malformation syndrome"},{"orpha":370079,"name":"Proximal 16p11.2 microduplication syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}