{"orpha":98153,"name":"Maternal 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-98153/","orphanet_url":"https://www.orpha.net/en/disease/detail/98153","names":{"fr":{"name":"Syndrome de disomie uniparentale maternelle"},"de":{"name":"Uniparentale Disomie, maternale"},"es":{"name":"Síndrome de disomía uniparental materna"},"it":{"name":"Sindrome disomia uniparentale di origine materna"},"nl":{"name":"Maternale uniparentale disomie-syndroom"},"pt":{"name":"Dissomia uniparental de origem materna"},"pl":{"name":"Zespół jednorodzicielskiej disomii pochodzenia matczynego"},"cs":{"name":"Uniparentální dizomie maternálního původu","synonyms":["Maternální uniparentální dizomie"]},"uk":{"name":"Материнська уніпарентна дисомія"},"zh":{"name":"母源性单亲二体"},"tr":{"name":"Maternal uniparental dizomi"}},"xrefs":[{"source":"ICD-11","code":"LD45.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"824346206"},{"source":"UMLS","code":"C4518512","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":251009,"name":"Maternal uniparental disomy of chromosome 1 syndrome","type":"Malformation syndrome"},{"orpha":97678,"name":"Maternal uniparental disomy of chromosome 13 syndrome","type":"Malformation syndrome"},{"orpha":96185,"name":"Maternal uniparental disomy of chromosome 16 syndrome","type":"Malformation syndrome"},{"orpha":96179,"name":"Maternal uniparental disomy of chromosome 2 syndrome","type":"Malformation syndrome"},{"orpha":96186,"name":"Maternal uniparental disomy of chromosome 20 syndrome","type":"Malformation syndrome"},{"orpha":96187,"name":"Maternal uniparental disomy of chromosome 21 syndrome","type":"Malformation syndrome"},{"orpha":96188,"name":"Maternal uniparental disomy of chromosome 22 syndrome","type":"Malformation syndrome"},{"orpha":96180,"name":"Maternal uniparental disomy of chromosome 4 syndrome","type":"Malformation syndrome"},{"orpha":96181,"name":"Maternal uniparental disomy of chromosome 6 syndrome","type":"Malformation syndrome"},{"orpha":96183,"name":"Maternal uniparental disomy of chromosome 9 syndrome","type":"Malformation syndrome"},{"orpha":98754,"name":"Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15","type":"Etiological subtype"},{"orpha":231147,"name":"Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11","type":"Etiological subtype"},{"orpha":96182,"name":"Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7","type":"Etiological subtype"},{"orpha":96184,"name":"Temple syndrome due to maternal uniparental disomy of chromosome 14","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}