{"orpha":262698,"name":"Partial duplication of the short arm of chromosome 2 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial duplication of chromosome 2p","Partial trisomy of chromosome 2p"],"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-262698/","orphanet_url":"https://www.orpha.net/en/disease/detail/262698","names":{"fr":{"name":"Syndrome de duplication partielle du bras court du chromosome 2","synonyms":["Duplication partielle du chromosome 2p","Partial trisomy of the short arm of chromosome 2","Trisomie partielle du bras court du chromosome 2","Trisomie partielle du chromosome 2p"]},"de":{"name":"Chromosom 2, partielle Duplikation des kurzen Arms","synonyms":["Chromosom 2p-Duplikation, partielle","Partielle Trisomie 2p","Partielle Trisomie des kurzen Arms von Chromosom 2"]},"es":{"name":"Síndrome de duplicación parcial del brazo corto del cromosoma 2","synonyms":["Duplicación parcial del cromosoma 2p","Trisomía parcial del cromosoma 2p"]},"it":{"name":"Sindrome duplicazione parziale del braccio corto del cromosoma 2","synonyms":["Duplicazione parziale del cromosoma 2p","Trisomia parziale del cromosoma 2p"]},"nl":{"name":"Partiële duplicatie van de korte arm van chromosoom 2-syndroom","synonyms":["Partiële duplicatie van chromosoom 2p","Partiële trisomie van chromosoom 2p"]},"pt":{"name":"Trissomia parcial do braço curto do cromossoma 2"},"pl":{"name":"Zespół częściowej duplikacji krótkiego ramienia chromosomu 2","synonyms":["Częściowa duplikacja chromosomu 2p","Częściowa trisomia chromosomu 2p"]},"cs":{"name":"Parciální duplikace krátkého raménka chromozomu 2","synonyms":["Parciální duplikace 2p","Parciální trizomie 2p"]},"uk":{"name":"Часткова дуплікація короткого плеча хромосоми 2","synonyms":["Часткова дуплікація хромосоми 2p","Часткова трисомія хромосоми 2р"]},"zh":{"name":"2号染色体短臂部分重复","synonyms":["2号染色体短臂部分重复"]},"tr":{"name":"2. kromozomun kısa kolunun kısmi duplikasyonu","synonyms":["2p kromozomunun kısmi trizomisi","2p kromozomunun kısmi duplikasyonu"]}},"xrefs":[{"source":"ICD-11","code":"LD41.11","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"232544112"},{"source":"MONDO","code":"0016939","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16939","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679718","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262196,"name":"Partial duplication of chromosome 2 syndrome","classifications":[147,156]}],"children":[{"orpha":699850,"name":"2p25.3 microduplication syndrome","type":"Malformation syndrome"},{"orpha":96070,"name":"Distal duplication 2p syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}