{"orpha":262182,"name":"Partial deletion of the long arm of chromosome 22 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial deletion of chromosome 22q","Partial monosomy of chromosome 22q","Partial monosomy of the long arm of chromosome 22"],"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-262182/","orphanet_url":"https://www.orpha.net/en/disease/detail/262182","names":{"fr":{"name":"Syndrome de délétion partielle du bras long du chromosome 22","synonyms":["Délétion partielle du chromosome 22q","Monosomie partielle du chromosome 22q","Monosomie partielle du long court du chromosome 22"]},"de":{"name":"Chromosom 22q-Deletion, partielle","synonyms":["Chromosom 22, partielle Deletion des langen Arms","Partielle Monosomie 22q","Partielle Monosomie des langen Arms von Chromosom 22"]},"es":{"name":"Síndrome de deleción parcial del brazo largo del cromosoma 22","synonyms":["Deleción parcial del cromosoma 22q","Monosomía parcial del brazo largo del cromosoma 22","Monosomía parcial del cromosoma 22q"]},"it":{"name":"Sindrome delezione parziale del braccio lungo del cromosoma 22","synonyms":["Monosomia parziale del cromosoma 22q","Delezione parziale del cromosoma 22q","Monosomia parziale del braccio lungo del cromosoma 22"]},"nl":{"name":"Partiële deletie van de lange arm van chromosoom 22-syndroom","synonyms":["Partiële deletie van chromosoom 22q","Partiële monosomie van chromosoom 22q","Partiële monosomie van de lange arm van chromosoom 22"]},"pt":{"name":"Monossomia parcial do braço longo do cromossoma 22"},"pl":{"name":"Zespół częściowej delecji długiego ramienia chromosomu 22","synonyms":["Częściowa delecja chromosomu 22q","Częściowa monosomia chromosomu 22q","Częściowa monosomia długiego ramienia chromosomu 22"]},"cs":{"name":"Parciální delece dlouhého raménka chromozomu 22","synonyms":["Parciální delece 22q","Parciální monozomie 22q","Parciální monozomie dlouhého raménka chromozomu 22"]},"uk":{"name":"Часткова делеція довгого плеча хромосоми 22","synonyms":["Часткова делеція хромосоми 22q","Часткова моносомія хромосоми 22q","Часткова моносомія довгого плеча хромосоми 22"]},"zh":{"name":"22号染色体长臂部分缺失","synonyms":["22号染色体长臂部分单体"]},"tr":{"name":"22. kromozomun uzun kolunun kısmi delesyonu","synonyms":["22q kromozomunun kısmi delesyonu","22q kromozomunun kısmi monozomisi","22. kromozomun uzun kolunun kısmi monozomisi"]}},"xrefs":[{"source":"MONDO","code":"0022760","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679725","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":567,"name":"22q11.2 deletion syndrome","type":"Malformation syndrome"},{"orpha":261330,"name":"Distal 22q11.2 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":662169,"name":"Phelan-McDermid syndrome due to 22q13.3 deletion","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}