{"orpha":263004,"name":"Partial duplication of the long arm of chromosome 22 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial duplication of chromosome 22q","Partial trisomy of chromosome 22q","Partial trisomy of the long arm of chromosome 22"],"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-263004/","orphanet_url":"https://www.orpha.net/en/disease/detail/263004","names":{"fr":{"name":"Syndrome de duplication partielle du bras long du chromosome 22","synonyms":["Duplication partielle du chromosome 22q","Trisomie partielle du bras long du chromosome 22","Trisomie partielle du chromosome 22q"]},"de":{"name":"Chromosom 22, partielle Duplikation des langen Arms","synonyms":["Chromosom 22q-Duplikation, partielle","Partielle Duplikation 22q","Partielle Trisomie des langen Arms von Chromosom 22"]},"es":{"name":"Síndrome de duplicación parcial del brazo largo del cromosoma 22","synonyms":["Duplicación parcial del cromosoma 22q","Trisomía parcial del brazo largo del cromosoma 22","Trisomía parcial del cromosoma 22q"]},"it":{"name":"Sindrome duplicazione parziale del braccio lungo del cromosoma 22","synonyms":["Duplicazione parziale del cromosoma 22q","Trisomia parziale del braccio lungo del cromosoma 22","Trisomia parziale del cromosoma 22q"]},"nl":{"name":"Partiële trisomie van de lange arm van chromosoom 22-syndroom","synonyms":["Partiële duplicatie van chromosoom 22q","Partiële trisomie van chromosoom 22q","Partiële trisomie van de lange arm van chromosoom 22"]},"pt":{"name":"Trissomia parcial do braço longo do cromossoma 22"},"pl":{"name":"Zespół częściowej duplikacji długiego ramienia chromosomu 22","synonyms":["Częściowa duplikacja chromosomu 22q","Częściowa trisomia chromosomu 22q","Częściowa trisomia długiego ramienia chromosomu 22"]},"cs":{"name":"Parciální duplikace dlouhého raménka chromozomu 22","synonyms":["Parciální duplikace 22q","Parciální trizomie 22q","Parciální trizomie dlouhého raménka chromozomu 22"]},"uk":{"name":"Часткове дуплікація довгого плеча хромосоми 22","synonyms":["Часткова дуплікація хромосоми 22q","Часткова трисомія хромосоми 22q","Часткова трисомія довгого плеча хромосоми 22"]},"zh":{"name":"22号染色体长臂部分重复","synonyms":["22号染色体长臂部分三体"]},"tr":{"name":"22. kromozomun uzun kolunun kısmi duplikasyonu","synonyms":["22q kromozomunun kısmi trizomisi","22q kromozomunun kısmi duplikasyonu","22. Kromozomun uzun kolunun kısmi trizomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD41.M","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"517506657"},{"source":"MONDO","code":"0016972","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16972","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679699","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":1727,"name":"22q11.2 duplication syndrome","type":"Malformation syndrome"},{"orpha":261337,"name":"Distal 22q11.2 microduplication syndrome","type":"Malformation syndrome"},{"orpha":96109,"name":"Distal duplication 22q syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}