{"orpha":261947,"name":"Partial deletion of the short arm of chromosome 11 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial deletion of chromosome 11p","Partial monosomy of chromosome 11p","Partial monosomy of the short arm of chromosome 11"],"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-261947/","orphanet_url":"https://www.orpha.net/en/disease/detail/261947","names":{"fr":{"name":"Syndrome de délétion partielle du bras court du chromosome 11","synonyms":["Délétion partielle du chromosome 11p","Monosomie partielle du bras court du chromosome 11","Monosomie partielle du chromosome 11p"]},"de":{"name":"Chromosom 11p-Deletion, partielle","synonyms":["Chromosom 11, partielle Deletion des kurzen Arms","Partielle Monosomie 11p","Partielle Monosomie des kurzen Arms von Chromosom 11"]},"es":{"name":"Síndrome de deleción parcial del brazo corto del cromosoma 11","synonyms":["Deleción parcial del cromosoma 11p","Monosomía parcial del brazo corto del cromosoma 11","Monosomía parcial del cromosoma 11p"]},"it":{"name":"Sindrome delezione parziale del braccio corto del cromosoma 11","synonyms":["Delezione parziale del cromosoma 11p","Monosomia parziale del braccio corto del cromosoma 11","Monosomia parziale del cromosoma 11p"]},"nl":{"name":"Partiële deletie van de korte arm van chromosoom 11-syndroom","synonyms":["Partiële deletie van chromosoom 11p","Partiële monosomie van chromosoom 11p","Partiële monosomie van de korte arm van chromosoom 11"]},"pt":{"name":"Monossomia parcial do braço curto do cromossoma 11"},"pl":{"name":"Zespół częściowej delecji krótkiego ramienia chromosomu 11","synonyms":["Częściowa delecja chromosomu 11p","Cześciowa monosomia chromosomu 11p","Częściowa monosomia krótkiego ramienia chromosomu 11"]},"cs":{"name":"Parciální delece krátkého raménka chromozomu 11","synonyms":["Parciální delece chromozomu 11p","Parciální monozomie chromozomu 11p","Parciální monozomie krátkého raménka chromozomu 11"]},"uk":{"name":"Часткова делеція короткого плеча хромосоми 11","synonyms":["Часткова делеція хромосоми 11p","Часткова моносомія хромосоми 11p","Часткова моносомія короткого плеча хромосоми 11"]},"zh":{"name":"11号染色体短臂部分缺失","synonyms":["11号染色体短臂部分单体"]},"tr":{"name":"11. kromozomun kısa kolunun kısmi delesyonu","synonyms":["11p kromozomunun kısmi delesyonu","11p kromozomunun kısmi monozomisi","11. kromozomun kısa kolunun kısmi monozomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD44.B1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"127054483"},{"source":"MONDO","code":"0016893","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16893","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538295","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931801","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261816,"name":"Partial deletion of chromosome 11 syndrome","classifications":[147,156]}],"children":[{"orpha":231127,"name":"Beckwith-Wiedemann syndrome due to 11p15 microdeletion","type":"Etiological subtype"},{"orpha":52022,"name":"Potocki-Shaffer syndrome","type":"Malformation syndrome"},{"orpha":893,"name":"WAGR syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}