{"orpha":262785,"name":"Partial duplication of the short arm of chromosome 11 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial duplication of chromosome 11p","Partial trisomy of chromosome 11p","Partial trisomy of the short arm of chromosome 11"],"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-262785/","orphanet_url":"https://www.orpha.net/en/disease/detail/262785","names":{"fr":{"name":"Syndrome de duplication partielle du bras court du chromosome 11","synonyms":["Duplication partielle du chromosome 11p","Trisomie partielle du bras court du chromosome 11","Trisomie partielle du chromosome 11p"]},"de":{"name":"Chromosom 11, partielle Duplikation des kurzen Arms","synonyms":["Chromosom 11p-Duplikation, partielle","Partielle Trisomie 11p","Partielle Trisomie des kurzen Arms von Chromosom 11"]},"es":{"name":"Síndrome de duplicación parcial del brazo corto del cromosoma 11","synonyms":["Duplicación parcial del cromosoma 11p","Trisomía parcial del brazo corto del cromosoma 11","Trisomía parcial del cromosoma 11p"]},"it":{"name":"Sindrome duplicazione parziale del braccio corto del cromosoma 11","synonyms":["Duplicazione parziale del cromosoma 11p","Trisomia parziale del braccio corto del cromosoma 11","Trisomia parziale del cromosoma 11p"]},"nl":{"name":"Partiële duplicatie van de korte arm van chromosoom 11-syndroom","synonyms":["Partiële duplicatie van chromosoom 11p","Partiële trisomie van chromosoom 11p","Partiële trisomie van de korte arm van chromosoom 11"]},"pt":{"name":"Trissomia parcial do braço curto do cromossoma 11"},"pl":{"name":"Zespół częściowej duplikacji krótkiego ramienia chromosomu 11","synonyms":["Częściowa duplikacja chromosomu 11p","Częściowa trisomia chromosomu 11p","Częściowa trisomia krótkiego ramienia chromosomu 11"]},"cs":{"name":"Parciální duplikace krátkého raménka chromozomu 11","synonyms":["Parciální duplikace 11p","Parciální trizomie 11p","Parciální trizomie krátkého raménka chromozomu 11"]},"uk":{"name":"Часткова дуплікація короткого плеча хромосоми 11","synonyms":["Часткова дуплікація хромосоми 11p","Часткова трисомія хромосоми 11р","Часткова трисомія короткого плеча хромосоми 11"]},"zh":{"name":"11号染色体短臂部分重复","synonyms":["11号染色体短臂部分重复"]},"tr":{"name":"11. kromozomun kısa kolunun kısmi duplikasyonu","synonyms":["11p kromozomunun kısmi trizomisi","11p kromozomunun kısmi duplikasyonu","11. kromozomun kısa kolunun kısmi trizomi"]}},"xrefs":[{"source":"MONDO","code":"0016948","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16948","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679716","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262653,"name":"Partial duplication of chromosome 11 syndrome","classifications":[147,156]}],"children":[{"orpha":300305,"name":"11p15.4 microduplication syndrome","type":"Malformation syndrome"},{"orpha":96076,"name":"Beckwith-Wiedemann syndrome due to 11p15 microduplication","type":"Etiological subtype"},{"orpha":231144,"name":"Silver-Russell syndrome due to 11p15 microduplication","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}