{"orpha":262887,"name":"Partial duplication of the long arm of chromosome 7 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial duplication of chromosome 7q","Partial trisomy of chromosome 7q","Partial trisomy of the long arm 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-262887/","orphanet_url":"https://www.orpha.net/en/disease/detail/262887","names":{"fr":{"name":"Syndrome de duplication partielle du bras long du chromosome 7","synonyms":["Duplication partielle du chromosome 7q","Trisomie partielle du bras long du chromosome 7","Trisomie partielle du chromosome 7q"]},"de":{"name":"Chromosom 7, partielle Duplikation des langen Arms","synonyms":["Chromosom 7q-Duplikation, partielle","Partielle Duplikation 7q","Partielle Trisomie des langen Arms von Chromosom 7"]},"es":{"name":"Síndrome de duplicación parcial del brazo largo del cromosoma 7","synonyms":["Duplicación parcial del cromosoma 7q","Trisomía parcial del brazo largo del cromosoma 7","Trisomía parcial del cromosoma 7q"]},"it":{"name":"Sindrome duplicazione parziale del braccio lungo del cromosoma 7","synonyms":["Duplicazione parziale del cromosoma 7q","Trisomia parziale del braccio lungo del cromosoma 7","Trisomia parziale del cromosoma 7q"]},"nl":{"name":"Partiële duplicatie van de lange arm van chromosoom 7-syndroom","synonyms":["Partiële duplicatie van chromosoom 7q","Partiële trisomie van chromosoom 7q","Partiële trisomie van de lange arm van chromosoom 7"]},"pt":{"name":"Trissomia parcial do braço longo do cromossoma 7"},"pl":{"name":"Zespół częściowej duplikacji długiego ramienia chromosomu 7","synonyms":["Częściowa duplikacja chromosomu 7q","Częściowa trisomia chromosomu 7q","Częściowa trisomia długiego ramienia chromosomu 7"]},"cs":{"name":"Parciální duplikace dlouhého raménka chromozomu 7","synonyms":["Parciální duplikace 7q","Parciální trizomie 7q","Parciální trizomie dlouhého raménka chromozomu 7"]},"uk":{"name":"Часткове дуплікація довгого плеча хромосоми 7","synonyms":["Часткова дуплікація хромосоми 7q","Часткова трисомія хромосоми 7q","Часткова трисомія довгого плеча хромосоми 7"]},"zh":{"name":"7号染色体长臂部分重复","synonyms":["7号染色体长臂部分三体"]},"tr":{"name":"7. kromozomun uzun kolunun kısmi duplikasyonu","synonyms":["7q Kromozomunun kısmi trizomisi","7q Kromozomunun kısmi duplikasyonu","7. Kromozomun uzun kolunun kısmi trizomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD41.60","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"462724513"},{"source":"MONDO","code":"0016958","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16958","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679709","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262633,"name":"Partial duplication of chromosome 7 syndrome","classifications":[147,156]}],"children":[{"orpha":96121,"name":"7q11.23 microduplication syndrome","type":"Malformation syndrome"},{"orpha":261102,"name":"Distal 7q11.23 microduplication syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}