{"orpha":262767,"name":"Partial duplication/triplication of the short arm of chromosome 9 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial duplication of chromosome 9p","Partial duplication of the short arm of chromosome 9","Partial tetrasomy of chromosome 9p","Partial triplication of chromosome 9p","Partial trisomy of chromosome 9p","Partial trisomy/tetrasomy of the short arm of chromosome 9"],"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-262767/","orphanet_url":"https://www.orpha.net/en/disease/detail/262767","names":{"fr":{"name":"Syndrome de duplication partielle du bras court du chromosome 9","synonyms":["Duplication partielle du chromosome 9p","Trisomie partielle du chromosome 9p","Trisomie/tétrasomie partielle du bras court du chromosome 9"]},"de":{"name":"Partielle Duplikation/Triplikation des kurzen Arms von Chromosom 9","synonyms":["Chromosom 9p-Duplikation, partielle","Partielle Duplikation des kurzen Arms von Chromosom 9","Partielle Duplikation von Chromosom 9p","Partielle Triplikation von Chromosom 9p"]},"es":{"name":"Síndrome de duplicación/triplicación parcial del brazo corto del cromosoma 9","synonyms":["Duplicación parcial del brazo corto del cromosoma 9","Duplicación parcial del cromosoma 9p","Tetrasomía parcial del cromosoma 9p","Triplicación parcial del cromosoma 9p","Trisomía parcial del cromosoma 9p","Trisomía/tetrasomía parcial del brazo corto del cromosoma 9"]},"it":{"name":"Sindrome duplicazione/triplicazione parziale del braccio corto del cromosoma 9","synonyms":["Triplicazione parziale del cromosoma 9p","Duplicazione parziale del braccio corto del cromosoma 9","Duplicazione parziale del cromosoma 9p","Tetrasomia parziale del cromosoma 9p","Trisomia parziale del cromosoma 9p","Trisomia/tetrasomia parziale del braccio corto del cromosoma 9"]},"nl":{"name":"Partiële duplicatie/triplicatie van de korte arm van chromosoom 9-syndroom","synonyms":["Partiële duplicatie van chromosoom 9p","Partiële duplicatie van de korte arm van chromosoom 9","Partiële tetrasomie van chromosoom 9p","Partiële triplicatie van chromosoom 9p","Partiële trisomie van chromosoom 9p","Partiële trisomie/tetrasomie van de korte arm van chromosoom 9"]},"pt":{"name":"Duplicação/triplicação parcial do braço curto do cromossoma 9","synonyms":["Duplicação parcial do braço curto do cromossoma 9","Duplicação parcial do cromossoma 9p","Tetrassomia parcial do cromossoma 9p","Triplicação parcial do cromossoma 9p","Trissomia parcial do cromossoma 9p","Trissomia/tetrassomia parcial do braço curto do cromossoma 9"]},"pl":{"name":"Zespół częściowej duplikacji/triplikacji krótkiego ramienia chromosomu 9","synonyms":["Częściowa duplikacja chromosomu 9p","Częściowa duplikacja krótkiego ramienia chromosomu 9","Częściowa trisomia chromosomu 9p","Częściowa duplikacja/triplikacja krótkiego ramienia chromosomu 9"]},"cs":{"name":"Parciální trizomie krátkého raménka chromozomu 9","synonyms":["Parciální duplikace 9p","Parciální duplikace krátkého raménka chromozomu 9","Parciální trizomie 9p"]},"uk":{"name":"Часткова дуплікація/триплікація короткого плеча хромосоми 9","synonyms":["Часткова дуплікація хромосоми 9p","Часткова дуплікація короткого плеча хромосоми 9","Часткова тетрасомія хромосоми 9р","Часткова триплікація хромосоми 9p","Часткова трисомія хромосоми 9р","Часткова трисомія/тетрасомія короткого плеча хромосоми 9"]},"zh":{"name":"9号染色体短臂部分三体/四体","synonyms":["9号染色体短臂部分重复"]},"tr":{"name":"9. kromozomun kısa kolunda kısmi trizomi / tetrazomi","synonyms":["9p kromozomunun kısmi trizomisi","9p kromozomunun kısmi duplikasyonu","9. kromozomun kısa kolunun kısmi duplikasyonu"]}},"xrefs":[{"source":"MONDO","code":"16526","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679711","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262643,"name":"Partial duplication/triplication of chromosome 9 syndrome","classifications":[147,156]}],"children":[{"orpha":3310,"name":"Tetrasomy 9p syndrome","type":"Malformation syndrome"},{"orpha":236,"name":"Trisomy 9p syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}