{"orpha":262173,"name":"Partial deletion of the long arm of chromosome 21 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial deletion of chromosome 21q","Partial monosomy of chromosome 21q","Partial monosomy of the long arm of chromosome 21"],"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-262173/","orphanet_url":"https://www.orpha.net/en/disease/detail/262173","names":{"fr":{"name":"Syndrome de délétion partielle du bras long du chromosome 21","synonyms":["Délétion partielle du chromosome 21q","Monosomie partielle du chromosome 21q","Monosomie partielle du long court du chromosome 21"]},"de":{"name":"Chromosom 21q-Deletion, partielle","synonyms":["Chromosom 21, partielle Deletion des langen Arms","Partielle Monosomie 21q","Partielle Monosomie des langen Arms von Chromosom 21"]},"es":{"name":"Síndrome de deleción parcial del brazo largo del cromosoma 21","synonyms":["Deleción parcial del cromosoma 21q","Monosomía parcial del brazo largo del cromosoma 21","Monosomía parcial del cromosoma 21q"]},"it":{"name":"Sindrome delezione parziale del braccio lungo del cromosoma 21","synonyms":["Delezione parziale del cromosoma 21q","Monosomia parziale del braccio lungo del cromosoma 21","Monosomia parziale del cromosoma 21q"]},"nl":{"name":"Partiële deletie van de lange arm van chromosoom 21-syndroom","synonyms":["Partiële deletie van chromosoom 21q","Partiële monosomie van chromosoom 21q","Partiële monosomie van de lange arm van chromosoom 21"]},"pt":{"name":"Monossomia parcial do braço longo do cromossoma 21"},"pl":{"name":"Zespół częściowej delecji długiego ramienia chromosomu 21","synonyms":["Częściowa delecja chromosomu 21q","Cześciowa monosomia chromosomu 21q","Częściowa monosomia długiego ramienia chromosomu 21"]},"cs":{"name":"Parciální delece dlouhého raménka chromozomu 21","synonyms":["Parciální delece 21q","Parciální monozomie 21q","Parciální monozomie dlouhého raménka chromozomu 21"]},"uk":{"name":"Часткова делеція довгого плеча хромосоми 21","synonyms":["Часткова делеція хромосоми 21q","Часткова моносомія хромосоми 21q","Часткова моносомія довгого плеча хромосоми 21"]},"zh":{"name":"21号染色体长臂部分缺失","synonyms":["21号染色体长臂部分单体"]},"tr":{"name":"21. kromozomun uzun kolunun kısmi delesyonu","synonyms":["21q kromozomunun kısmi delesyonu","21q kromozomunun kısmi monozomisi","21. kromozomun uzun kolunun kısmi monozomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD44.M","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1725516492"},{"source":"MONDO","code":"0016919","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16919","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679731","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98142,"name":"Partial autosomal deletion syndrome","classifications":[147,156]}],"children":[{"orpha":574,"name":"21q deletion syndrome","type":"Malformation syndrome"},{"orpha":261323,"name":"21q22.11q22.12 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":268261,"name":"DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}