{"orpha":262803,"name":"Partial duplication of the short arm of chromosome 17 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial duplication of chromosome 17p","Partial trisomy of chromosome 17p","Partial trisomy of the short arm of chromosome 17"],"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-262803/","orphanet_url":"https://www.orpha.net/en/disease/detail/262803","names":{"fr":{"name":"Syndrome de duplication partielle du bras court du chromosome 17","synonyms":["Duplication partielle du chromosome 17p","Trisomie partielle du bras court du chromosome 17","Trisomie partielle du chromosome 17p"]},"de":{"name":"Chromosom 17, partielle Duplikation des kurzen Arms","synonyms":["Chromosom 17p-Duplikation, partielle","Partielle Trisomie 17p","Partielle Trisomie des kurzen Arms von Chromosom 17"]},"es":{"name":"Síndrome de duplicación parcial del brazo corto del cromosoma 17","synonyms":["Duplicación parcial del cromosoma 17p","Trisomía parcial del brazo corto del cromosoma 17","Trisomía parcial del cromosoma 17p"]},"it":{"name":"Sindrome duplicazione parziale del braccio corto del cromosoma 17","synonyms":["Duplicazione parziale del cromosoma 17p","Trisomia parziale del braccio corto del cromosoma 17","Trisomia parziale del cromosoma 17p"]},"nl":{"name":"Partiële duplicatie van de korte arm van chromosoom 17-syndroom","synonyms":["Partiële duplicatie van chromosoom 17p","Partiële trisomie van chromosoom 17p","Partiële trisomie van de korte arm van chromosoom 17"]},"pt":{"name":"Trissomia parcial do braço curto do cromossoma 17"},"pl":{"name":"Zespół częściowej duplikacji krótkiego ramienia chromosomu 17","synonyms":["Częściowa duplikacja chromosomu 17p","Częściowa duplikacja krótkiego ramienia chromosomu 17","Częściowa trisomia chromosomu 17p"]},"cs":{"name":"Parciální duplikace krátkého raménka chromozomu 17","synonyms":["Parciální duplikace 17p","Parciální trizomie 17p","Parciální trizomie krátkého raménka chromozomu 17"]},"uk":{"name":"Часткова дуплікація короткого плеча хромосоми 17","synonyms":["Часткова дуплікація хромосоми 17p","Часткова трисомія хромосоми 17р","Часткова трисомія короткого плеча хромосоми 17"]},"zh":{"name":"17号染色体短臂部分重复","synonyms":["17号染色体短臂部分重复"]},"tr":{"name":"17. kromozomun kısa kolunun kısmi duplikasyonu","synonyms":["17p kromozomunun kısmi trizomisi","17p kromozomunun kısmi duplikasyonu","17. kromozomun kısa kolunun kısmi trizomi"]}},"xrefs":[{"source":"ICD-11","code":"LD41.G1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1672849162"},{"source":"MONDO","code":"0016950","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16950","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679714","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262677,"name":"Partial duplication of chromosome 17 syndrome","classifications":[147,156]}],"children":[{"orpha":1713,"name":"17p11.2 microduplication syndrome","type":"Malformation syndrome"},{"orpha":217385,"name":"17p13.3 microduplication syndrome","type":"Malformation syndrome"},{"orpha":101081,"name":"Charcot-Marie-Tooth disease type 1A","type":"Disease"},{"orpha":261290,"name":"Trisomy 17p syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}