{"orpha":262092,"name":"Partial deletion of the long arm of chromosome 11 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial deletion of chromosome 11q","Partial monosomy of chromosome 11q","Partial monosomy of the long 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-262092/","orphanet_url":"https://www.orpha.net/en/disease/detail/262092","names":{"fr":{"name":"Syndrome de délétion partielle du bras long du chromosome 11","synonyms":["Délétion partielle du chromosome 11q","Monosomie partielle du chromosome 11q","Monosomie partielle du long court du chromosome 11"]},"de":{"name":"Chromosom 11q-Deletion, partielle","synonyms":["Chromosom 11, partielle Deletion des langen Arms","Partielle Monosomie 11q","Partielle Monosomie des langen Arms von Chromosom 11"]},"es":{"name":"Síndrome de deleción parcial del brazo largo del cromosoma 11","synonyms":["Deleción parcial del cromosoma 11q","Monosomía parcial del brazo largo del cromosoma 11","Monosomía parcial del cromosoma 11q"]},"it":{"name":"Sindrome delezione parziale del braccio lungo del cromosoma 11","synonyms":["Delezione parziale del cromosoma 11q","Monosomia parziale del braccio lungo del cromosoma 11","Monosomia parziale del cromosoma 11q"]},"nl":{"name":"Partiële deletie van de lange arm van chromosoom 11-syndroom","synonyms":["Partiële deletie van chromosoom 11q","Partiële monosomie van chromosoom 11q","Partiële monosomie van de lange arm van chromosoom 11"]},"pt":{"name":"Monossomia parcial do braço longo do cromossoma 11"},"pl":{"name":"Zespół częściowej delecji długiego ramienia chromosomu 11","synonyms":["Częściowa delecja chromosomu 11q","Cześciowa monosomia chromosomu 11q","Częściowa monosomia długiego ramienia chromosomu 11"]},"cs":{"name":"Parciální delece dlouhého raménka chromozomu 11","synonyms":["Parciální delece chromozomu 11q","Parciální monozomie chromozomu 11q","Parciální monozomie dlouhého raménka chromozomu 11"]},"uk":{"name":"Часткова делеція довгого плеча хромосоми 11","synonyms":["Часткова делеція хромосоми 11q","Часткова моносомія хромосоми 11q","Часткова моносомія довгого плеча хромосоми 11"]},"zh":{"name":"11号染色体长臂部分缺失","synonyms":["11号染色体长臂部分单体"]},"tr":{"name":"11. kromozomun uzun kolunun kısmi delesyonu","synonyms":["11q kromozomunun kısmi delesyonu","11q kromozomunun kısmi monozomisi","11. kromozomun uzun kolunun kısmi monozomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD44.B0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"237602200"},{"source":"MONDO","code":"0016910","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16910","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538296","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931804","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":444002,"name":"11q22.2q22.3 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":2308,"name":"Jacobsen syndrome","type":"Malformation syndrome"},{"orpha":99806,"name":"Oculootodental syndrome","type":"Malformation syndrome"},{"orpha":2791,"name":"Otodental syndrome","type":"Malformation syndrome"},{"orpha":851,"name":"Paris-Trousseau thrombocytopenia","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}