{"orpha":262707,"name":"Partial duplication of the short arm of chromosome 3 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial duplication of chromosome 3p","Partial trisomy of chromosome 3p","Partial trisomy of the short arm of chromosome 3"],"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-262707/","orphanet_url":"https://www.orpha.net/en/disease/detail/262707","names":{"fr":{"name":"Syndrome de duplication partielle du bras court du chromosome 3","synonyms":["Duplication partielle du chromosome 3p","Trisomie partielle du bras court du chromosome 3","Trisomie partielle du chromosome 3p"]},"de":{"name":"Chromosom 3, partielle Duplikation des kurzen Arms","synonyms":["Chromosom 3p-Duplikation, partielle","Partielle Trisomie 3p","Partielle Trisomie des kurzen Arms von Chromosom 3"]},"es":{"name":"Síndrome de duplicación parcial del brazo corto del cromosoma 3","synonyms":["Duplicación parcial del cromosoma 3p","Trisomía parcial del brazo corto del cromosoma 3","Trisomía parcial del cromosoma 3p"]},"it":{"name":"Sindrome duplicazione parziale del braccio corto del cromosoma 3","synonyms":["Duplicazione parziale del cromosoma 3p","Trisomia parziale del braccio corto del cromosoma 3","Trisomia parziale del cromosoma 3p"]},"nl":{"name":"Partiële duplicatie van de korte arm van chromosoom 3-syndroom","synonyms":["Partiële duplicatie van chromosoom 3p","Partiële trisomie van chromosoom 3p","Partiële trisomie van de korte arm van chromosoom 3"]},"pt":{"name":"Trissomia parcial do braço curto do cromossoma 3"},"pl":{"name":"Zespół częściowej duplikacji krótkiego ramienia chromosomu 3","synonyms":["Częściowa duplikacja chromosomu 3p","Częściowa trisomia chromosomu 3p","Częściowa trisomia krótkiego ramienia chromosomu 3"]},"cs":{"name":"Parciální duplikace krátkého raménka chromozomu 3","synonyms":["Parciální duplikace 3p","Parciální trizomie 3p","Parciální trizomie krátkého raménka chromozomu 3"]},"uk":{"name":"Часткова дуплікація короткого плеча хромосоми 3","synonyms":["Часткова дуплікація хромосоми 3p","Часткова трисомія хромосоми 3р","Часткова трисомія короткого плеча хромосоми 3"]},"zh":{"name":"3号染色体短臂部分重复","synonyms":["3号染色体短臂部分重复"]},"tr":{"name":"3. kromozomun kısa kolunun kısmi duplikasyonu","synonyms":["3p kromozomunun kısmi trizomisi","3p kromozomunun kısmi duplikasyonu","3. kromozomun kısa kolunun kısmi trizomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD41.21","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"514472294"},{"source":"MONDO","code":"0016940","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16940","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679720","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262201,"name":"Partial duplication of chromosome 3 syndrome","classifications":[147,156]}],"children":[{"orpha":96071,"name":"Distal duplication 3p syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}