{"orpha":262633,"name":"Partial duplication of chromosome 7 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial trisomy of chromosome 7"],"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-262633/","orphanet_url":"https://www.orpha.net/en/disease/detail/262633","names":{"fr":{"name":"Syndrome de duplication partielle du chromosome 7","synonyms":["Trisomie partielle du chromosome 7"]},"de":{"name":"Chromosom 7-Duplikation, partielle","synonyms":["Partielle Trisomie des Chromosoms 7"]},"es":{"name":"Síndrome de duplicación parcial del cromosoma 7","synonyms":["Trisomía parcial del cromosoma 7"]},"it":{"name":"Sindrome duplicazione parziale del cromosoma 7","synonyms":["Trisomia parziale del cromosoma 7"]},"nl":{"name":"Partiële duplicatie van chromosoom 7-syndroom","synonyms":["Partiële trisomie van chromosoom 7"]},"pt":{"name":"Trissomia parcial do cromossoma 7"},"pl":{"name":"Zespół częściowej duplikacji chromosomu 7","synonyms":["Częściowa trisomia chromosomu 7"]},"cs":{"name":"Parciální duplikace chromozomu 7","synonyms":["Parciální trizomie chromozomu 7"]},"uk":{"name":"Часткова дуплікація хромосоми 7","synonyms":["Часткова трисомія хромосоми 7"]},"zh":{"name":"7号染色体部分重复","synonyms":["7号染色体部分三体"]},"tr":{"name":"7. kromozomun kısmi duplikasyonu","synonyms":["7. kromozomun kısmi trizomisi"]}},"xrefs":[{"source":"MONDO","code":"0016928","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16928","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518496","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":262887,"name":"Partial duplication of the long arm of chromosome 7 syndrome","type":"Category"},{"orpha":262749,"name":"Partial duplication of the short arm of chromosome 7 syndrome","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}