{"orpha":262164,"name":"Partial deletion of the long arm of chromosome 20 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial deletion of chromosome 20q","Partial monosomy of chromosome 20q","Partial monosomy of the long arm of chromosome 20"],"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-262164/","orphanet_url":"https://www.orpha.net/en/disease/detail/262164","names":{"fr":{"name":"Syndrome de délétion partielle du bras long du chromosome 20","synonyms":["Délétion partielle du chromosome 20q","Monosomie partielle du chromosome 20q","Monosomie partielle du long court du chromosome 20"]},"de":{"name":"Chromosom 20q-Deletion, partielle","synonyms":["Chromosom 20, partielle Deletion des langen Arms","Partielle Monosomie 20q","Partielle Monosomie des langen Arms von Chromosom 20"]},"es":{"name":"Síndrome de deleción parcial del brazo largo del cromosoma 20","synonyms":["Deleción parcial del cromosoma 20q","Monosomía parcial del brazo largo del cromosoma 20","Monosomía parcial del cromosoma 20q"]},"it":{"name":"Sindrome delezione parziale del braccio lungo del cromosoma 20","synonyms":["Delezione parziale del cromosoma 20q","Monosomia parziale del braccio lungo del cromosoma 20","Monosomia parziale del cromosoma 20q"]},"nl":{"name":"Partiële deletie van de lange arm van chromosoom 20-syndroom","synonyms":["Partiële deletie van chromosoom 20q","Partiële monosomie van chromosoom 20q","Partiële monosomie van de lange arm van chromosoom 20"]},"pt":{"name":"Monossomia parcial do braço longo do cromossoma 20"},"pl":{"name":"Zespół częściowej delecji długiego ramienia chromosomu 20","synonyms":["Częściowa delecja chromosomu 20q","Cześciowa monosomia chromosomu 20q","Częściowa monosomia długiego ramienia chromosomu 20"]},"cs":{"name":"Parciální delece dlouhého raménka chromozomu 20","synonyms":["Parciální delece 20q","Parciální monozomie 20q","Parciální monozomie dlouhého raménka chromozomu 20"]},"uk":{"name":"Часткова делеція довгого плеча хромосоми 20","synonyms":["Часткова делеція хромосоми 20q","Часткова моносомія хромосоми 20q","Часткова моносомія довгого плеча хромосоми 20"]},"zh":{"name":"20号染色体长臂部分缺失","synonyms":["20号染色体长臂部分单体"]},"tr":{"name":"20. kromozomun uzun kolunun kısmi delesyonu","synonyms":["20q kromozomunun kısmi delesyonu","20q kromozomunun kısmi monozomisi","20. kromozomun uzun kolunun kısmi monozomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD44.L0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"27627438"},{"source":"MONDO","code":"0016918","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16918","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679730","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261846,"name":"Partial deletion of chromosome 20 syndrome","classifications":[147,156]}],"children":[{"orpha":444051,"name":"20q11.2 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":261311,"name":"20q13.33 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":261638,"name":"Okihiro syndrome due to 20q13 microdeletion","type":"Etiological subtype"},{"orpha":261304,"name":"Paternal 20q13.2q13.3 microdeletion syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}