{"orpha":262740,"name":"Partial duplication of the short arm of chromosome 6 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial trisomy of the short arm of chromosome 6","Partial duplication of chromosome 6p","Partial trisomy of chromosome 6p"],"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-262740/","orphanet_url":"https://www.orpha.net/en/disease/detail/262740","names":{"fr":{"name":"Syndrome de duplication partielle du bras court du chromosome 6","synonyms":["Duplication partielle du chromosome 6p","Trisomie partielle du bras court du chromosome 6","Trisomie partielle du chromosome 6p"]},"de":{"name":"Chromosom 6, partielle Duplikation des kurzen Arms","synonyms":["Chromosom 6p-Duplikation, partielle","Partielle Trisomie 6p","Partielle Trisomie des kurzen Arms von Chromosom 6"]},"es":{"name":"Síndrome de duplicación parcial del brazo corto del cromosoma 6","synonyms":["Duplicación parcial del cromosoma 6p","Trisomía parcial del brazo corto del cromosoma 6","Trisomía parcial del cromosoma 6p"]},"it":{"name":"Sindrome duplicazione parziale del braccio corto del cromosoma 6","synonyms":["Duplicazione parziale del cromosoma 6p","Trisomia parziale del braccio corto del cromosoma 6","Trisomia parziale del cromosoma 6p"]},"nl":{"name":"Partiële duplicatie van de korte arm van chromosoom 6-syndroom","synonyms":["Partiële duplicatie van chromosoom 6p","Partiële trisomie van chromosoom 6p","Partiële trisomie van de korte arm van chromosoom 6"]},"pt":{"name":"Trissomia parcial do braço curto do cromossoma 6"},"pl":{"name":"Zespół częściowej duplikacji krótkiego ramienia chromosomu 6","synonyms":["Częściowa duplikacja chromosomu 6p","Częściowa trisomia chromosomu 6p","Częściowa trisomia krótkiego ramienia chromosomu 6"]},"cs":{"name":"Parciální duplikace krátkého raménka chromozomu 6","synonyms":["Parciální duplikace 6p","Parciální trizomie 6p","Parciální trizomie krátkého raménka chromozomu 6"]},"uk":{"name":"Часткова дуплікація короткого плеча хромосоми 6","synonyms":["Часткова дуплікація хромосоми 6p","Часткова трисомія хромосоми 6р","Часткова трисомія короткого плеча хромосоми 6"]},"zh":{"name":"6号染色体短臂部分重复","synonyms":["6号染色体短臂部分重复"]},"tr":{"name":"6. kromozomun kısa kolunun kısmi duplikasyonu","synonyms":["6p kromozomunun kısmi trizomisi","6p kromozomunun kısmi duplikasyonu","6. kromozomun kısa kolunun kısmi trizomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD41.51","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"657610285"},{"source":"MONDO","code":"0016943","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16943","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679721","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262628,"name":"Partial duplication of chromosome 6 syndrome","classifications":[147,156]}],"children":[{"orpha":1745,"name":"Distal duplication 6p syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}