{"orpha":262065,"name":"Partial deletion of the long arm of chromosome 8 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial deletion of chromosome 8q","Partial monosomy of chromosome 8q","Partial monosomy of the long arm of chromosome 8"],"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-262065/","orphanet_url":"https://www.orpha.net/en/disease/detail/262065","names":{"fr":{"name":"Syndrome de délétion partielle du bras long du chromosome 8","synonyms":["Délétion partielle du chromosome 8q","Monosomie partielle du chromosome 8q","Monosomie partielle du long court du chromosome 8"]},"de":{"name":"Chromosom 8q-Deletion, partielle","synonyms":["Chromosom 8, partielle Deletion des langen Arms","Partielle Monosomie 8q","Partielle Monosomie des langen Arms von Chromosom 8"]},"es":{"name":"Síndrome de deleción parcial del brazo largo del cromosoma 8","synonyms":["Deleción parcial del cromosoma 8q","Monosomía parcial del brazo largo del cromosoma 8","Monosomía parcial del cromosoma 8q"]},"it":{"name":"Sindrome delezione parziale del braccio lungo del cromosoma 8","synonyms":["Delezione parziale del cromosoma 8q","Monosomia parziale del braccio lungo del cromosoma 8","Monosomia parziale del cromosoma 8q"]},"nl":{"name":"Partiële deletie van de lange arm van chromosoom 8-syndroom","synonyms":["Partiële deletie van chromosoom 8q","Partiële monosomie van chromosoom 8q","Partiële monosomie van de lange arm van chromosoom 8"]},"pt":{"name":"Monossomia parcial do braço longo do cromossoma 8"},"pl":{"name":"Zespół częściowej delecji długiego ramienia chromosomu 8","synonyms":["Częściowa delecja chromosomu 8q","Cześciowa monosomia chromosomu 8q","Częściowa monosomia długiego ramienia chromosomu 8"]},"cs":{"name":"Parciální delece dlouhého raménka chromozomu 8","synonyms":["Parciální delece chromozomu 8q","Parciální monozomie chromozomu 8q","Parciální monozomie dlouhého raménka chromozomu 8"]},"uk":{"name":"Часткова делеція довгого плеча хромосоми 8","synonyms":["Часткова делеція хромосоми 8q","Часткова моносомія хромосоми 8q","Часткова моносомія довгого плеча хромосоми 8"]},"zh":{"name":"8号染色体长臂部分缺失","synonyms":["8号染色体长臂部分单体"]},"tr":{"name":"8. kromozomun uzun kolunun kısmi delesyonu","synonyms":["8q kromozomunun kısmi delesyonu","8q kromozomunun kısmi monozomisi","8. kromozomun uzun kolunun kısmi monozomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD44.80","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"653068448"},{"source":"MONDO","code":"0016907","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16907","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537828","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795828","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261801,"name":"Partial deletion of chromosome 8 syndrome","classifications":[147,156]}],"children":[{"orpha":284160,"name":"8q21.11 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":178303,"name":"8q22.1 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":508488,"name":"8q24.3 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":2496,"name":"Mesomelia-synostoses syndrome","type":"Malformation syndrome"},{"orpha":502,"name":"Trichorhinophalangeal syndrome type 2","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}