{"orpha":262638,"name":"Partial duplication of chromosome 8 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial trisomy of chromosome 8"],"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-262638/","orphanet_url":"https://www.orpha.net/en/disease/detail/262638","names":{"fr":{"name":"Syndrome de duplication partielle du chromosome 8","synonyms":["Trisomie partielle du chromosome 8"]},"de":{"name":"Chromosom 8-Duplikation, partielle","synonyms":["Partielle Trisomie des Chromosoms 8"]},"es":{"name":"Síndrome de duplicación parcial del cromosoma 8","synonyms":["Trisomía parcial del cromosoma 8"]},"it":{"name":"Sndrome duplicazione parziale del cromosoma 8","synonyms":["Trisomia parziale del cromosoma 8"]},"nl":{"name":"Partiële duplicatie van chromosoom 8-syndroom","synonyms":["Partiële trisomie van chromosoom 8"]},"pt":{"name":"Trissomia parcial do cromossoma 8"},"pl":{"name":"Zespół częściowej duplikacji chromosomu 8","synonyms":["Częściowa trisomia chromosomu 8"]},"cs":{"name":"Parciální duplikace chromozomu 8","synonyms":["Parciální trizomie chromozomu 8"]},"uk":{"name":"Часткова дуплікація хромосоми 8","synonyms":["Часткова трисомія хромосоми 8"]},"zh":{"name":"8号染色体部分重复","synonyms":["8号染色体部分三体"]},"tr":{"name":"8. kromozomun kısmi duplikasyonu","synonyms":["8. kromozomun kısmi trizomisi"]}},"xrefs":[{"source":"MONDO","code":"0016929","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16929","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537941","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931671","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":262896,"name":"Partial duplication of the long arm of chromosome 8 syndrome","type":"Category"},{"orpha":262758,"name":"Partial duplication of the short arm of chromosome 8 syndrome","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}