{"orpha":262896,"name":"Partial duplication of the long arm of chromosome 8 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial duplication of chromosome 8q","Partial trisomy of chromosome 8q","Partial trisomy of the long arm 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-262896/","orphanet_url":"https://www.orpha.net/en/disease/detail/262896","names":{"fr":{"name":"Syndrome de duplication partielle du bras long du chromosome 8","synonyms":["Duplication partielle du chromosome 8q","Trisomie partielle du bras long du chromosome 8","Trisomie partielle du chromosome 8q"]},"de":{"name":"Chromosom 8, partielle Duplikation des langen Arms","synonyms":["Chromosom 8q-Duplikation, partielle","Partielle Duplikation 8q","Partielle Trisomie des langen Arms von Chromosom 8"]},"es":{"name":"Síndrome de duplicación parcial del brazo largo del cromosoma 8","synonyms":["Duplicación parcial del cromosoma 8q","Trisomía parcial del brazo largo del cromosoma 8","Trisomía parcial del cromosoma 8q"]},"it":{"name":"Sindrome duplicazione parziale del braccio lungo del cromosoma 8","synonyms":["Duplicazione parziale del cromosoma 8q","Trisomia parziale del braccio lungo del cromosoma 8","Trisomia parziale del cromosoma 8q"]},"nl":{"name":"Partiële duplicatie van de lange arm van chromosoom 8-syndroom","synonyms":["Partiële duplicatie van chromosoom 8q","Partiële trisomie van chromosoom 8q","Partiële trisomie van de lange arm van chromosoom 8"]},"pt":{"name":"Trissomia parcial do braço longo do cromossoma 8"},"pl":{"name":"Zespół częściowej duplikacji długiego ramienia chromosomu 8","synonyms":["Częściowa duplikacja chromosomu 8q","Częściowa trisomia chromosomu 8q","Częściowa trisomia długiego ramienia chromosomu 8"]},"cs":{"name":"Parciální duplikace dlouhého raménka chromozomu 8","synonyms":["Parciální duplikace 8q","Parciální trizomie 8q","Parciální trizomie dlouhého raménka chromozomu 8"]},"uk":{"name":"Часткове дуплікація довгого плеча хромосоми 8","synonyms":["Часткова дуплікація хромосоми 8q","Часткова трисомія хромосоми 8q","Часткова трисомія довгого плеча хромосоми 8"]},"zh":{"name":"8号染色体长臂部分重复","synonyms":["8号染色体长臂部分三体"]},"tr":{"name":"8. kromozomun uzun kolunun kısmi duplikasyonu","synonyms":["8q kromozomunun kısmi trizomisi","8q kromozomunun kısmi duplikasyonu","8. kromozomun uzun kolunun kısmi trizomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD41.70","qualifier":"NTBT","icd_relation":"specific","validated":true},{"source":"MONDO","code":"0016959","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16959","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679703","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262638,"name":"Partial duplication of chromosome 8 syndrome","classifications":[147,156]}],"children":[{"orpha":228399,"name":"8q12 microduplication syndrome","type":"Malformation syndrome"},{"orpha":96100,"name":"Distal duplication 8q syndrome","type":"Malformation syndrome"},{"orpha":1752,"name":"Trisomy 8q syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}