{"orpha":262146,"name":"Partial deletion of the long arm of chromosome 18 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial deletion of chromosome 18q","Partial monosomy of chromosome 18q","Partial monosomy of the long arm of chromosome 18"],"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-262146/","orphanet_url":"https://www.orpha.net/en/disease/detail/262146","names":{"fr":{"name":"Syndrome de délétion partielle du bras long du chromosome 18","synonyms":["Délétion partielle du chromosome 18q","Monosomie partielle du chromosome 18q","Monosomie partielle du long court du chromosome 18"]},"de":{"name":"Chromosom 18q-Deletion, partielle","synonyms":["Chromosom 18, partielle Deletion des langen Arms","Partielle Monosomie 18q","Partielle Monosomie des langen Arms von Chromosom 18"]},"es":{"name":"Síndrome de deleción parcial del brazo largo del cromosoma 18","synonyms":["Deleción parcial del cromosoma 18q","Monosomía parcial del brazo largo del cromosoma 18","Monosomía parcial del cromosoma 18q"]},"it":{"name":"Sindrome delezione parziale del braccio lungo del cromosoma 18","synonyms":["Delezione parziale del cromosoma 18q","Monosomia parziale del braccio lungo del cromosoma 18","Monosomia parziale del cromosoma 18q"]},"nl":{"name":"Partiële deletie van de lange arm van chromosoom 18-syndroom","synonyms":["Partiële deletie van chromosoom 18q","Partiële monosomie van chromosoom 18q","Partiële monosomie van de lange arm van chromosoom 18"]},"pt":{"name":"Monossomia parcial do braço longo do cromossoma 18"},"pl":{"name":"Zespół częściowej delecji długiego ramienia chromosomu 18","synonyms":["Częściowa delecja chromosomu 18q","Cześciowa monosomia chromosomu 18q","Częściowa monosomia długiego ramienia chromosomu 18"]},"cs":{"name":"Parciální delece dlouhého raménka chromozomu 18","synonyms":["Parciální delece 18q","Parciální monozomie 18q","Parciální monozomie dlouhého raménka chromozomu 18"]},"uk":{"name":"Часткова делеція довгого плеча хромосоми 18","synonyms":["Часткова делеція хромосоми 18q","Часткова моносомія хромосоми 18q","Часткова моносомія довгого плеча хромосоми 18"]},"zh":{"name":"18号染色体长臂部分缺失","synonyms":["18号染色体长臂部分单体"]},"tr":{"name":"18. kromozomun uzun kolunun kısmi delesyonu","synonyms":["18q kromozomunun kısmi delesyonu","18q kromozomunun kısmi monozomisi","18. kromozomun uzun kolunun kısmi monozomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD44.J0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1121828795"},{"source":"MONDO","code":"11147","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679728","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261836,"name":"Partial deletion of chromosome 18 syndrome","classifications":[147,156]}],"children":[{"orpha":1600,"name":"Monosomy 18q syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}