{"orpha":262653,"name":"Partial duplication of chromosome 11 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial trisomy 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-262653/","orphanet_url":"https://www.orpha.net/en/disease/detail/262653","names":{"fr":{"name":"Syndrome de duplication partielle du chromosome 11","synonyms":["Trisomie partielle du chromosome 11"]},"de":{"name":"Chromosom 11-Duplikation, partielle","synonyms":["Partielle Trisomie des Chromosoms 11"]},"es":{"name":"Síndrome de duplicación parcial del cromosoma 11","synonyms":["Trisomía parcial del cromosoma 11"]},"it":{"name":"Sindrome duplicazione parziale del cromosoma 11","synonyms":["Trisomia parziale del cromosoma 11"]},"nl":{"name":"Partiële duplicatie van chromosoom 11-syndroom","synonyms":["Partiële trisomie van chromosoom 11"]},"pt":{"name":"Trissomia parcial do cromossoma 11"},"pl":{"name":"Zespół częściowej duplikacji chromosomu 11","synonyms":["Częściowa trisomia chromosomu 11"]},"cs":{"name":"Parciální duplikace chromozomu 11","synonyms":["Parciální trizomie chromozomu 11"]},"uk":{"name":"Часткова дуплікація хромосоми 11","synonyms":["Часткова трисомія хромосоми 11"]},"zh":{"name":"11号染色体部分重复","synonyms":["11号染色体部分三体"]},"tr":{"name":"11. kromozomun kısmi duplikasyonu","synonyms":["11. kromozomun kısmi trizomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD41.A","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"398975192"},{"source":"MONDO","code":"0016932","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16932","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518499","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98132,"name":"Partial autosomal duplication/triplication syndrome","classifications":[147,156]}],"children":[{"orpha":262923,"name":"Partial duplication of the long arm of chromosome 11 syndrome","type":"Category"},{"orpha":262785,"name":"Partial duplication of the short arm of chromosome 11 syndrome","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}