{"orpha":102020,"name":"Autosomal monosomy syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Autosomal deletion"],"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-102020/","orphanet_url":"https://www.orpha.net/en/disease/detail/102020","names":{"fr":{"name":"Syndrome de monosomies des autosomes","synonyms":["Délétions des autosomes"]},"de":{"name":"Monosomie, autosomale","synonyms":["Autosomale Deletion"]},"es":{"name":"Síndrome de monosomía autosómica","synonyms":["Deleción autosómica"]},"it":{"name":"Sindrome monosomia autosomica","synonyms":["Delezione autosomica"]},"nl":{"name":"Autosomale monosomie-syndroom","synonyms":["Autosomale deletie"]},"pt":{"name":"Monossomia autossómica"},"pl":{"name":"Zespół monosomii autosomalnej","synonyms":["Delecja autosomalna"]},"cs":{"name":"Monozomie autozomů","synonyms":["Delece autozomů"]},"uk":{"name":"Аутосомна моносомія","synonyms":["Аутосомна делеція"]},"zh":{"name":"常染色体单体","synonyms":["常染色体缺失"]},"tr":{"name":"Otozomal monozomi","synonyms":["Otozomal delesyon"]}},"xrefs":[{"source":"ICD-11","code":"LD43","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"595685802"},{"source":"ICD-11","code":"LD44","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"343448541"},{"source":"MONDO","code":"15153","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0026499","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98127,"name":"Autosomal anomaly syndrome","classifications":[147,156]}],"children":[{"orpha":98142,"name":"Partial autosomal deletion syndrome","type":"Category"},{"orpha":98141,"name":"Total autosomal monosomy syndrome","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}