{"orpha":262191,"name":"Partial duplication of chromosome 1 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial trisomy 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-262191/","orphanet_url":"https://www.orpha.net/en/disease/detail/262191","names":{"fr":{"name":"Syndrome de duplication partielle du chromosome 1","synonyms":["Trisomie partielle du chromosome 1"]},"de":{"name":"Chromosom 1-Duplikation, partielle","synonyms":["Partielle Trisomie des Chromosoms 1"]},"es":{"name":"Síndrome de duplicación parcial del cromosoma 1","synonyms":["Trisomía parcial del cromosoma 1"]},"it":{"name":"Sindrome duplicazione parziale del cromosoma 1","synonyms":["Trisomia parziale del cromosoma 1"]},"nl":{"name":"Partiële duplicatie van chromosoom 1-syndroom","synonyms":["Partiële trisomie van chromosoom 1"]},"pt":{"name":"Trissomia parcial do cromossoma 1"},"pl":{"name":"Zespół częściowej duplikacji chromosomu 1","synonyms":["Częściowa trisomia chromosomu 1"]},"cs":{"name":"Parciální duplikace chromozomu 1","synonyms":["Parciální trizomie chromozomu 1"]},"uk":{"name":"Часткова дуплікація хромосоми 1","synonyms":["Часткова трисомія за хромосомою 1"]},"zh":{"name":"1号染色体部分重复","synonyms":["1号染色体部分三体"]},"tr":{"name":"1. kromozomun kısmi duplikasyonu","synonyms":["1. kromozomun kısmi trizomisi"]}},"xrefs":[{"source":"MONDO","code":"0016921","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16921","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518488","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":262833,"name":"Partial duplication of the long arm of chromosome 1 syndrome","type":"Category"},{"orpha":264431,"name":"Partial duplication of the short arm of chromosome 1 syndrome","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}