{"orpha":262842,"name":"Partial duplication of the long arm of chromosome 2 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial duplication of chromosome 2q","Partial trisomy of chromosome 2q","Partial trisomy of the long arm of chromosome 2"],"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-262842/","orphanet_url":"https://www.orpha.net/en/disease/detail/262842","names":{"fr":{"name":"Syndrome de duplication partielle du bras long du chromosome 2","synonyms":["Duplication partielle du chromosome 2q","Trisomie partielle du bras long du chromosome 2","Trisomie partielle du chromosome 2q"]},"de":{"name":"Chromosom 2, partielle Duplikation des langen Arms","synonyms":["Chromosom 2q-Duplikation, partielle","Partielle Duplikation 2q","Partielle Trisomie des langen Arms von Chromosom 2"]},"es":{"name":"Síndrome de duplicación parcial del brazo largo del cromosoma 2","synonyms":["Duplicación parcial del cromosoma 2q","Trisomía parcial del brazo largo del cromosoma 2","Trisomía parcial del cromosoma 2q"]},"it":{"name":"Sindrome duplicazione parziale del braccio lungo del cromosoma 2","synonyms":["Duplicazione parziale del cromosoma 2q","Trisomia parziale del braccio lungo del cromosoma 2","Trisomia parziale del cromosoma 2q"]},"nl":{"name":"Partiële duplicatie van de lange arm van chromosoom 2-syndroom","synonyms":["Partiële duplicatie van chromosoom 2q","Partiële trisomie van chromosoom 2q","Partiële trisomie van de lange arm van chromosoom 2"]},"pt":{"name":"Trissomia parcial do braço longo do cromossoma 2"},"pl":{"name":"Zespół częściowej duplikacji długiego ramienia chromosomu 2","synonyms":["Częściowa duplikacja chromosomu 2q","Częściowa trisomia chromosomu 2q","Częściowa trisomia długiego ramienia chromosomu 2"]},"cs":{"name":"Parciální duplikace dlouhého raménka chromozomu 2","synonyms":["Parciální duplikace 2q","Parciální trizomie 2q","Parciální trizomie dlouhého raménka chromozomu 2"]},"uk":{"name":"Часткове дуплікація довгого плеча хромосоми 2","synonyms":["Часткова дуплікація хромосоми 2q","Часткова трисомія хромосоми 2q","Часткова трисомія довгого плеча хромосоми 2"]},"zh":{"name":"2号染色体长臂部分重复","synonyms":["2号染色体长臂部分重复"]},"tr":{"name":"2. kromozomun uzun kolunun kısmi duplikasyonu","synonyms":["2q kromozomunun kısmi trizomisi","2q kromozomunun kısmi duplikasyonu","2. kromozomun uzun kolunun kısmi trizomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD41.10","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"472179859"},{"source":"MONDO","code":"0016953","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16953","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679706","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262196,"name":"Partial duplication of chromosome 2 syndrome","classifications":[147,156]}],"children":[{"orpha":313947,"name":"2q23.1 microduplication syndrome","type":"Malformation syndrome"},{"orpha":96094,"name":"Distal duplication 2q syndrome","type":"Malformation syndrome"},{"orpha":294026,"name":"Syndactyly-nystagmus syndrome due to 2q31.1 microduplication","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}