{"orpha":262851,"name":"Partial duplication of the long arm of chromosome 3 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial duplication of chromosome 3q","Partial trisomy of chromosome 3q"],"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-262851/","orphanet_url":"https://www.orpha.net/en/disease/detail/262851","names":{"fr":{"name":"Syndrome de duplication partielle du bras long du chromosome 3","synonyms":["Duplication partielle du chromosome 3q","Trisomie partielle du bras long du chromosome 3","Trisomie partielle du chromosome 3q"]},"de":{"name":"Chromosom 3, partielle Duplikation des langen Arms","synonyms":["Chromosom 3q-Duplikation, partielle","Partielle Duplikation 3q","Partielle Trisomie des langen Arms von Chromosom 3"]},"es":{"name":"Síndrome de duplicación parcial del brazo largo del cromosoma 3","synonyms":["Duplicación parcial del cromosoma 3q","Trisomía parcial del cromosoma 3q"]},"it":{"name":"Sindrome duplicazione parziale del braccio lungo del cromosoma 3","synonyms":["Duplicazione parziale del cromosoma 3q","Trisomia parziale del cromosoma 3q"]},"nl":{"name":"Partiële duplicatie van de lange arm van chromosoom 3-syndroom","synonyms":["Partiële duplicatie van chromosoom 3q","Partiële trisomie van chromosoom 3q"]},"pt":{"name":"Trissomia parcial do braço longo do cromossoma 3"},"pl":{"name":"Zespół częściowej duplikacji długiego ramienia chromosomu 3","synonyms":["Częściowa duplikacja chromosomu 3q","Częściowa trisomia chromosomu 3q"]},"cs":{"name":"Parciální duplikace dlouhého raménka chromozomu 3","synonyms":["Parciální duplikace 3q","Parciální trizomie 3q"]},"uk":{"name":"Часткове дуплікація довгого плеча хромосоми 3","synonyms":["Часткова дуплікація хромосоми 3q","Часткова трисомія хромосоми 3q"]},"zh":{"name":"3号染色体长臂部分重复","synonyms":["染色体3q部分重复"]},"tr":{"name":"3. kromozomun uzun kolunun kısmi duplikasyonu","synonyms":["3q kromozomunun kısmi trizomisi","3q kromozomunun kısmi duplikasyonu"]}},"xrefs":[{"source":"ICD-11","code":"LD41.20","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1132834719"},{"source":"MONDO","code":"0016954","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16954","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679707","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262201,"name":"Partial duplication of chromosome 3 syndrome","classifications":[147,156]}],"children":[{"orpha":96095,"name":"3q26 microduplication syndrome","type":"Malformation syndrome"},{"orpha":251038,"name":"3q29 microduplication syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}