{"orpha":98152,"name":"Autosomal uniparental disomy 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-98152/","orphanet_url":"https://www.orpha.net/en/disease/detail/98152","names":{"fr":{"name":"Syndrome de disomie uniparentale des autosomes"},"de":{"name":"Uniparentale Disomie, autosomale"},"es":{"name":"Síndrome de disomía autosómica uniparental"},"it":{"name":"Sindrome disomia uniparentale autosomica"},"nl":{"name":"Autosomale uniparentale disomie-syndroom"},"pt":{"name":"Dissomia uniparental autossómica"},"pl":{"name":"Zespół jednorodzicielskiej disomii autosomalnej"},"cs":{"name":"Uniparentální dizomie autozomů"},"uk":{"name":"Аутосомна уніпарентна дисомія"},"zh":{"name":"常染色体单亲二体"},"tr":{"name":"Otozomal uniparental dizomi"}},"xrefs":[{"source":"UMLS","code":"C5681500","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":98153,"name":"Maternal uniparental disomy syndrome","type":"Category"},{"orpha":329813,"name":"Mosaic genome-wide paternal uniparental disomy syndrome","type":"Malformation syndrome"},{"orpha":98154,"name":"Paternal uniparental disomy syndrome","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}