{"orpha":262047,"name":"Partial deletion of the long arm of chromosome 6 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial deletion of chromosome 6q","Partial monosomy of chromosome 6q","Partial monosomy of the long arm of chromosome 6"],"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-262047/","orphanet_url":"https://www.orpha.net/en/disease/detail/262047","names":{"fr":{"name":"Syndrome de délétion partielle du bras long du chromosome 6","synonyms":["Délétion partielle du chromosome 6q","Monosomie partielle du chromosome 6q","Monosomie partielle du long court du chromosome 6"]},"de":{"name":"Chromosom 6q-Deletion, partielle","synonyms":["Chromosom 6, partielle Deletion des langen Arms","Partielle Monosomie 6q","Partielle Monosomie des langen Arms von Chromosom 6"]},"es":{"name":"Síndrome de deleción parcial del brazo largo del cromosoma 6","synonyms":["Deleción parcial del cromosoma 6q","Monosomía parcial del brazo largo del cromosoma 6","Monosomía parcial del cromosoma 6q"]},"it":{"name":"Sindrome delezione parziale del braccio lungo del cromosomae 6","synonyms":["Delezione parziale del cromosoma 6q","Monosomia parziale del braccio lungo del cromosoma 6","Monosomia parziale del cromosoma 6q"]},"nl":{"name":"Partiële deletie van de lange arm van chromosoom 6-syndroom","synonyms":["Partiële deletie van chromosoom 6q","Partiële monosomie van chromosoom 6q","Partiële monosomie van de lange arm van chromosoom 6"]},"pt":{"name":"Monossomia parcial do braço longo do cromossoma 6"},"pl":{"name":"Zespół częściowej delecji długiego ramienia chromosomu 6","synonyms":["Częściowa delecja chromosomu 6q","Cześciowa monosomia chromosomu 6q","Częściowa monosomia długiego ramienia chromosomu 6"]},"cs":{"name":"Parciální delece dlouhého raménka chromozomu 6","synonyms":["Parciální delece chromozomu 6q","Parciální monozomie chromozomu 6q","Parciální monozomie dlouhého raménka chromozomu 6"]},"uk":{"name":"Часткова делеція довгого плеча хромосоми 6","synonyms":["Часткова делеція хромосоми 6q","Часткова моносомія хромосоми 6q","Часткова моносомія довгого плеча хромосоми 6"]},"zh":{"name":"6号染色体长臂部分缺失","synonyms":["6号染色体长臂部分单体"]},"tr":{"name":"6. kromozomun uzun kolunun kısmi delesyonu","synonyms":["6q kromozomunun kısmi delesyonu","6q kromozomunun kısmi monozomisi","6. kromozomun uzun kolunun kısmi monozomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD44.60","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"41692353"},{"source":"MONDO","code":"0016905","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16905","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537807","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795816","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261791,"name":"Partial deletion of chromosome 6 syndrome","classifications":[147,156]}],"children":[{"orpha":75857,"name":"6q terminal deletion syndrome","type":"Malformation syndrome"},{"orpha":171829,"name":"6q16 microdeletion syndrome","type":"Disease"},{"orpha":664404,"name":"6q25.1 microdeletion syndrome","type":"Etiological subtype"},{"orpha":251056,"name":"6q25.2q25.3 microdeletion syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}