{"orpha":98141,"name":"Total autosomal monosomy syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"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-98141/","orphanet_url":"https://www.orpha.net/en/disease/detail/98141","names":{"fr":{"name":"Syndrome de monosomies totales des autosomes"},"de":{"name":"Monosomie, autosomale totale"},"es":{"name":"Síndrome de monosomía total de autosomas"},"it":{"name":"Sindrome monosomia autosomica totale"},"nl":{"name":"Volledige autosomale monosomie-syndroom"},"pt":{"name":"Monossomia total autossómica"},"pl":{"name":"Zespół całkowitej monosomii autosomu"},"cs":{"name":"Monozomie celých autozomů"},"uk":{"name":"Повна аутосомна моносомія"},"zh":{"name":"全部常染色体单体"},"tr":{"name":"Toplam otozomal monozomi"}},"xrefs":[{"source":"ICD-11","code":"LD43.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"599695253"},{"source":"UMLS","code":"C5681502","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":102020,"name":"Autosomal monosomy syndrome","classifications":[147,156]}],"children":[{"orpha":96123,"name":"Monosomy 22 syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}