{"orpha":98154,"name":"Paternal 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-98154/","orphanet_url":"https://www.orpha.net/en/disease/detail/98154","names":{"fr":{"name":"Syndrome de disomie uniparentale paternelle"},"de":{"name":"Uniparentale Disomie, paternale"},"es":{"name":"Síndrome de disomía uniparental paterna"},"it":{"name":"Sindrome disomia uniparentale di origine paterna"},"nl":{"name":"Paternale uniparentale disomie-syndroom"},"pt":{"name":"Dissomia uniparental de origem paterna"},"pl":{"name":"Zespół jednorodzicielskiej disomii pochodzenia ojcowskiego"},"cs":{"name":"Uniparentální dizomie paternálního původu","synonyms":["Paternální uniparentální dizomie"]},"uk":{"name":"Батькова уніпарентна дисомія"},"zh":{"name":"父源性单亲二体"},"tr":{"name":"Paternal uniparental dizomi"}},"xrefs":[{"source":"ICD-11","code":"LD45.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2028476598"},{"source":"UMLS","code":"C4518513","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98152,"name":"Autosomal uniparental disomy syndrome","classifications":[147,156]}],"children":[{"orpha":98795,"name":"Angelman syndrome due to paternal uniparental disomy of chromosome 15","type":"Etiological subtype"},{"orpha":96193,"name":"Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11","type":"Etiological subtype"},{"orpha":96334,"name":"Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14","type":"Etiological subtype"},{"orpha":251004,"name":"Paternal uniparental disomy of chromosome 1 syndrome","type":"Malformation syndrome"},{"orpha":99324,"name":"Paternal uniparental disomy of chromosome 13 syndrome","type":"Malformation syndrome"},{"orpha":96194,"name":"Paternal uniparental disomy of chromosome 20 syndrome","type":"Malformation syndrome"},{"orpha":96195,"name":"Paternal uniparental disomy of chromosome 21 syndrome","type":"Malformation syndrome"},{"orpha":96190,"name":"Paternal uniparental disomy of chromosome 5 syndrome","type":"Malformation syndrome"},{"orpha":96191,"name":"Paternal uniparental disomy of chromosome 6 syndrome","type":"Malformation syndrome"},{"orpha":96192,"name":"Paternal uniparental disomy of chromosome 7 syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}