{"orpha":262749,"name":"Partial duplication of the short arm of chromosome 7 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial duplication of chromosome 7p","Partial trisomy of chromosome 7p","Partial trisomy of the short arm of chromosome 7"],"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-262749/","orphanet_url":"https://www.orpha.net/en/disease/detail/262749","names":{"fr":{"name":"Syndrome de duplication partielle du bras court du chromosome 7","synonyms":["Duplication partielle du chromosome 7p","Trisomie partielle du bras court du chromosome 7","Trisomie partielle du chromosome 7p"]},"de":{"name":"Chromosom 7, partielle Duplikation des kurzen Arms","synonyms":["Chromosom 7p-Duplikation, partielle","Partielle Trisomie 7p","Partielle Trisomie des kurzen Arms von Chromosom 7"]},"es":{"name":"Síndrome de duplicación parcial del brazo corto del cromosoma 7","synonyms":["Duplicación parcial del cromosoma 7p","Trisomía parcial del brazo corto del cromosoma 7","Trisomía parcial del cromosoma 7p"]},"it":{"name":"Sindrome duplicazione parziale del braccio corto del cromosoma 7","synonyms":["Duplicazione parziale del cromosoma 7p","Trisomia parziale del braccio corto del cromosoma 7","Trisomia parziale del cromosoma 7p"]},"nl":{"name":"Partiële duplicatie van de korte arm van chromosoom 7-syndroom","synonyms":["Partiële duplicatie van chromosoom 7p","Partiële trisomie van chromosoom 7p","Partiële trisomie van de korte arm van chromosoom 7"]},"pt":{"name":"Trissomia parcial do braço curto do cromossoma 7"},"pl":{"name":"Zespół częściowej duplikacji krótkiego ramienia chromosomu 7","synonyms":["Częściowa duplikacja chromosomu 7p","Częściowa trisomia chromosomu 7p","Częściowa trisomia krótkiego ramienia chromosomu 7"]},"cs":{"name":"Parciální duplikace krátkého raménka chromozomu 7","synonyms":["Parciální duplikace 7p","Parciální trizomie 7p","Parciální trizomie krátkého raménka chromozomu 7"]},"uk":{"name":"Часткова дуплікація короткого плеча хромосоми 7","synonyms":["Часткова дуплікація хромосоми 7p","Часткова трисомія хромосоми 7р","Часткова трисомія короткого плеча хромосоми 7"]},"zh":{"name":"7号染色体短臂部分重复","synonyms":["7号染色体短臂部分重复"]},"tr":{"name":"7. kromozomun kısa kolunun kısmi duplikasyonu","synonyms":["7p kromozomunun kısmi trizomisi","7p kromozomunun kısmi duplikasyonu","7. kromozomun kısa kolunun kısmi trizomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD41.61","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"79901143"},{"source":"MONDO","code":"0016944","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16944","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679713","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262633,"name":"Partial duplication of chromosome 7 syndrome","classifications":[147,156]}],"children":[{"orpha":314034,"name":"7p22.1 microduplication syndrome","type":"Malformation syndrome"},{"orpha":96074,"name":"Distal duplication 7p syndrome","type":"Malformation syndrome"},{"orpha":231137,"name":"Silver-Russell syndrome due to 7p11.2p13 microduplication","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}