{"orpha":262833,"name":"Partial duplication of the long arm of chromosome 1 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial duplication of chromosome 1q","Partial trisomy of chromosome 1q","Partial trisomy of the long arm of chromosome 1"],"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-262833/","orphanet_url":"https://www.orpha.net/en/disease/detail/262833","names":{"fr":{"name":"Syndrome de duplication partielle du bras long du chromosome 1","synonyms":["Duplication partielle du chromosome 1q","Trisomie partielle du bras long du chromosome 1","Trisomie partielle du chromosome 1q"]},"de":{"name":"Chromosom 1, partielle Duplikation des langen Arms","synonyms":["Chromosom 1q-Duplikation, partielle","Partielle Duplikation 1q","Partielle Trisomie des langen Arms von Chromosom 1"]},"es":{"name":"Síndrome de duplicación parcial del brazo largo del cromosoma 1","synonyms":["Duplicación parcial del cromosoma 1q","Trisomía parcial del brazo largo del cromosoma 1","Trisomía parcial del cromosoma 1q"]},"it":{"name":"Sindrome duplicazione parziale del braccio lungo del cromosoma 1","synonyms":["Duplicazione parziale del cromosoma 1q","Trisomia parziale del braccio lungo del cromosoma 1","Trisomia parziale del cromosoma 1q"]},"nl":{"name":"Partiële duplicatie van de lange arm van chromosoom 1-syndroom","synonyms":["Partiële duplicatie van chromosoom 1q","Partiële trisomie van chromosoom 1q","Partiële trisomie van de lange arm van chromosoom 1"]},"pt":{"name":"Trissomia parcial do braço longo do cromossoma 1"},"pl":{"name":"Zespół częściowej duplikacji długiego ramienia chromosomu 1","synonyms":["Częściowa duplikacja chromosomu 1q","Częściowa trisomia chromosomu 1q","Częściowa trisomia długiego ramienia chromosomu 1"]},"cs":{"name":"Parciální duplikace dlouhého raménka chromozomu 1","synonyms":["Parciální duplikace 1q","Parciální trizomie 1q","Parciální trizomie dlouhého raménka chromozomu 1"]},"uk":{"name":"Часткове дуплікація довгого плеча хромосоми 1","synonyms":["Часткова дуплікація хромосоми 1q","Часткова трисомія хромосоми 1q","Часткова трисомія довгого плеча хромосоми 1"]},"zh":{"name":"1号染色体长臂部分重复","synonyms":["1号染色体长臂部分重复"]},"tr":{"name":"1. kromozomun uzun kolunun kısmi duplikasyonu","synonyms":["1q kromozomunun kısmi trizomisi","1. kromozomun kısmi duplikasyonu","1. kromozomun uzun kolunun kısmi trizomi"]}},"xrefs":[{"source":"ICD-11","code":"LD41.00","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"73883755"},{"source":"MONDO","code":"0016952","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16952","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4708598","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262191,"name":"Partial duplication of chromosome 1 syndrome","classifications":[147,156]}],"children":[{"orpha":250994,"name":"1q21.1 microduplication syndrome","type":"Malformation syndrome"},{"orpha":261344,"name":"Trisomy 1q syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}