{"orpha":262860,"name":"Partial duplication of the long arm of chromosome 4 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial duplication of chromosome 4q","Partial trisomy of chromosome 4q","Partial trisomy of the long arm of chromosome 4"],"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-262860/","orphanet_url":"https://www.orpha.net/en/disease/detail/262860","names":{"fr":{"name":"Syndrome de duplication partielle du bras long du chromosome 4","synonyms":["Duplication partielle du chromosome 4q","Trisomie partielle du bras long du chromosome 4","Trisomie partielle du chromosome 4q"]},"de":{"name":"Chromosom 4, partielle Duplikation des langen Arms","synonyms":["Chromosom 4q-Duplikation, partielle","Partielle Duplikation 4q","Partielle Trisomie des langen Arms von Chromosom 4"]},"es":{"name":"Síndrome de duplicación parcial del brazo largo del cromosoma 4","synonyms":["Duplicación parcial del cromosoma 4q","Trisomía parcial del brazo largo del cromosoma 4","Trisomía parcial del cromosoma 4q"]},"it":{"name":"Sindrome duplicazione parziale del braccio lungo del cromosoma 4","synonyms":["Duplicazione parziale del cromosoma 4q","Trisomia parziale del braccio lungo del cromosoma 4","Trisomia parziale del cromosoma 4q"]},"nl":{"name":"Partiële duplicatie van de lange arm van chromosoom 4-syndroom","synonyms":["Partiële duplicatie van chromosoom 4q","Partiële trisomie van chromosoom 4q","Partiële trisomie van de lange arm van chromosoom 4"]},"pt":{"name":"Trissomia parcial do braço longo do cromossoma 4"},"pl":{"name":"Zespół częściowej duplikacji długiego ramienia chromosomu 4","synonyms":["Częściowa duplikacja chromosomu 4q","Częściowa trisomia chromosomu 4q","Częściowa trisomia długiego ramienia chromosomu 4"]},"cs":{"name":"Parciální duplikace dlouhého raménka chromozomu 4","synonyms":["Parciální duplikace 4q","Parciální trizomie 4q","Parciální trizomie dlouhého raménka chromozomu 4"]},"uk":{"name":"Часткове дуплікація довгого плеча хромосоми 4","synonyms":["Часткова дуплікація хромосоми 4q","Часткова трисомія хромосоми 4q","Часткова трисомія довгого плеча хромосоми 4"]},"zh":{"name":"4号染色体长臂部分重复","synonyms":["4号染色体长臂部分三体"]},"tr":{"name":"4. kromozomun uzun kolunun kısmi duplikasyonu","synonyms":["4q kromozomunun kısmi trizomisi","4q kromozomunun kısmi duplikasyonu","4. kromozomun uzun kolunun kısmi trizomi"]}},"xrefs":[{"source":"ICD-11","code":"LD41.30","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"959729903"},{"source":"MONDO","code":"0016955","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16955","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679710","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":1739,"name":"OBSOLETE: Duplication 4q","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262206,"name":"Partial duplication of chromosome 4 syndrome","classifications":[147,156]}],"children":[{"orpha":96096,"name":"Distal duplication 4q syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}