{"orpha":262716,"name":"Partial duplication of the short arm of chromosome 4 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial duplication of chromosome 4p","Partial trisomy of chromosome 4p","Partial trisomy of the short 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-262716/","orphanet_url":"https://www.orpha.net/en/disease/detail/262716","names":{"fr":{"name":"Syndrome de duplication partielle du bras court du chromosome 4","synonyms":["Duplication partielle du chromosome 4p","Trisomie partielle du bras court du chromosome 4","Trisomie partielle du chromosome 4p"]},"de":{"name":"Chromosom 4, partielle Duplikation des kurzen Arms","synonyms":["Chromosom 4p-Duplikation, partielle","Partielle Trisomie 4p","Partielle Trisomie des kurzen Arms von Chromosom 4"]},"es":{"name":"Síndrome de duplicación parcial del brazo corto del cromosoma 4","synonyms":["Duplicación parcial del cromosoma 4p","Trisomía parcial del brazo corto del cromosoma 4","Trisomía parcial del cromosoma 4p"]},"it":{"name":"Sindrome duplicazione parziale del braccio corto del cromosoma 4","synonyms":["Trisomia parziale del braccio corto del cromosoma 4","Trisomia parziale del cromosoma 4p","Duplicazione parziale del cromosoma 4p"]},"nl":{"name":"Partiële duplicatie van de korte arm van chromosoom 4-syndroom","synonyms":["Partiële duplicatie van chromosoom 4p","Partiële trisomie van chromosoom 4p","Partiële trisomie van de korte arm van chromosoom 4"]},"pt":{"name":"Trissomia parcial do braço curto do cromossoma 4"},"pl":{"name":"Zespół częściowej duplikacji krótkiego ramienia chromosomu 4","synonyms":["Częściowa duplikacja chromosomu 4p","Częściowa trisomia chromosomu 4p","Częściowa trisomia krótkiego ramienia chromosomu 4"]},"cs":{"name":"Parciální duplikace krátkého raménka chromozomu 4","synonyms":["Parciální duplikace 4p","Parciální trizomie 4p","Parciální trizomie krátkého raménka chromozomu 4"]},"uk":{"name":"Часткова дуплікація короткого плеча хромосоми 4","synonyms":["Часткова дуплікація хромосоми 4p","Часткова трисомія хромосоми 4р","Часткова трисомія короткого плеча хромосоми 4"]},"zh":{"name":"4号染色体短臂部分重复","synonyms":["4号染色体短臂部分重复"]},"tr":{"name":"4. kromozomun kısa kolunun kısmi duplikasyonu","synonyms":["4p kromozomunun kısmi trizomisi","4p kromozomunun kısmi duplikasyonu","4. kromozomun kısa kolunun kısmi trizomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD41.31","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1245616284"},{"source":"MONDO","code":"0016941","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16941","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679719","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"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":96072,"name":"4p16.3 microduplication syndrome","type":"Malformation syndrome"},{"orpha":1738,"name":"Trisomy 4p syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}