{"orpha":264431,"name":"Partial duplication of the short arm of chromosome 1 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial duplication of chromosome 1p","Partial trisomy of chromosome 1p"],"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-264431/","orphanet_url":"https://www.orpha.net/en/disease/detail/264431","names":{"fr":{"name":"Syndrome de duplication partielle du bras court du chromosome 1","synonyms":["Duplication partielle du chromosome 1p","Partial trisomy of the short arm of chromosome 1","Trisomie partielle du bras court du chromosome 1","Trisomie partielle du chromosome 1p"]},"de":{"name":"Chromosom 1, partielle Duplikation des kurzen Arms","synonyms":["Chromosom 1p-Duplikation, partielle","Partielle Duplikation 1p","Partielle Trisomie des kurzen Arms von Chromosom 1"]},"es":{"name":"Síndrome de duplicación parcial del brazo corto del cromosoma 1","synonyms":["Duplicación parcial del cromosoma 1p","Trisomía parcial del cromosoma 1p"]},"it":{"name":"Sindrome duplicazione parziale del braccio corto del cromosoma 1","synonyms":["Duplicazione parziale del cromosoma 1p","Trisomia parziale del cromosoma 1p"]},"nl":{"name":"Partiële duplicatie van de korte arm van chromosoom 1-syndroom","synonyms":["Partiële duplicatie van chromosoom 1p","Partiële trisomie van chromosoom 1p"]},"pt":{"name":"Duplicação parcial do braço curto do cromossoma 1"},"pl":{"name":"Zespół częściowej duplikacji krótkiego ramienia chromosomu 1","synonyms":["Częściowa duplikacja chromosomu1p","Częściowa trisomia chromosomu 1p"]},"cs":{"name":"Parciální duplikace krátkého raménka chromozomu 1","synonyms":["Parciální duplikace 1p","Parciální trizomie 1p"]},"uk":{"name":"Часткова дуплікація короткого плеча хромосоми 1","synonyms":["Часткова дуплікація хромосоми 1p","Часткова трисомія хромосоми 1р"]},"zh":{"name":"1号染色体短臂部分重复","synonyms":["1p部分重复"]},"tr":{"name":"1. kromozomun kısa kolunun kısmi duplikasyon","synonyms":["Kromozom 1p nin kısmi trizomisi","Kromozom 1p nin kısmi duplikasyonu"]}},"xrefs":[{"source":"ICD-11","code":"LD41.01","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"774713494"},{"source":"MONDO","code":"0017012","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17012","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679751","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262191,"name":"Partial duplication of chromosome 1 syndrome","classifications":[147,156]}],"children":[{"orpha":656279,"name":"1p36.33 duplication syndrome","type":"Disease"},{"orpha":96069,"name":"Distal duplication 1p36 syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}