{"orpha":262977,"name":"Partial duplication of the long arm of chromosome 18 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial duplication of chromosome 18q","Partial trisomy of chromosome 18q","Partial trisomy of the long arm of chromosome 18"],"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-262977/","orphanet_url":"https://www.orpha.net/en/disease/detail/262977","names":{"fr":{"name":"Syndrome de duplication partielle du bras long du chromosome 18","synonyms":["Duplication partielle du chromosome 18q","Trisomie partielle du bras long du chromosome 18","Trisomie partielle du chromosome 18q"]},"de":{"name":"Partielle Duplikation des langen Arms von Chromosom 18","synonyms":["Chromosom 18q-Duplikation, partielle","Partielle Duplikation 18q"]},"es":{"name":"Síndrome de duplicación parcial del brazo largo del cromosoma 18","synonyms":["Duplicación parcial del cromosoma 18q","Trisomía parcial del brazo largo del cromosoma 18","Trisomía parcial del cromosoma 18q"]},"it":{"name":"Sindrome duplicazione parziale del braccio lungo del cromosoma 18","synonyms":["Trisomia parziale del braccio lungo del cromosoma 18","Duplicazione parziale del cromosoma 18q","Trisomia parziale del cromosoma 18q"]},"nl":{"name":"Partiële duplicatie van de lange arm van chromosoom 18-syndroom","synonyms":["Partiële duplicatie van chromosoom 18q","Partiële trisomie van chromosoom 18q","Partiële trisomie van de lange arm van chromosoom 18"]},"pt":{"name":"Duplicação parcial do braço longo do cromossoma 18","synonyms":["Duplicação parcial do cromossoma 18q","Trissomia parcial do braço longo do cromossoma 18","Trissomia parcial do cromossoma 18q"]},"pl":{"name":"Zespół częściowej duplikacji długiego ramienia chromosomu 18","synonyms":["Częściowa duplikacja chromosomu 18q","Częściowa duplikacja długiego ramienia chromosomu 18","Częściowa trisomia chromosomu 18q"]},"cs":{"name":"Parciální trizomie dlouhého raménka chromozomu 18","synonyms":["Parciální duplikace 18q","Parciální duplikace dlouhého raménka chromozomu 18","Parciální trizomie 18q"]},"uk":{"name":"Часткова дуплікація довгого плеча хромосоми 18","synonyms":["Часткова дуплікація хромосоми 18q","Часткова трисомія хромосоми 18q","Часткова трисомія довгого плеча хромосоми 18"]},"zh":{"name":"18号染色体长臂部分三体","synonyms":["18号染色体长臂部分重复"]},"tr":{"name":"18. kromozomun uzun kolunun kısmi trizomisi","synonyms":["18q kromozomunun kısmi trizomisi","18q kromozomunun kısmi duplikasyonu","18. Kromozomun uzun kolunun kısmi duplikasyonu"]}},"xrefs":[{"source":"ICD-11","code":"LD41.H0","qualifier":"NTBT","icd_relation":"specific","validated":true},{"source":"MONDO","code":"0016968","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16968","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679697","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262682,"name":"Partial duplication/triplication of chromosome 18 syndrome","classifications":[147,156]}],"children":[{"orpha":1716,"name":"Distal duplication 18q syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}