{"orpha":263793,"name":"Uniparental disomy of chromosome X syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["UPD(X)"],"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-263793/","orphanet_url":"https://www.orpha.net/en/disease/detail/263793","names":{"fr":{"name":"Syndrome de disomie uniparentale du chromosome x","synonyms":["UPD(X)"]},"de":{"name":"Uniparentale Disomie X","synonyms":["UPDX"]},"es":{"name":"Síndrome de disomía uniparental del cromosoma X","synonyms":["UPD(X)"]},"it":{"name":"Sindrome disomia uniparentale del cromosoma X","synonyms":["UPD(X)"]},"nl":{"name":"Uniparentale disomie van chromosoom X-syndroom","synonyms":["UPD(X)"]},"pt":{"name":"Disomia uniparental do cromossoma X"},"pl":{"name":"Zespół disomii jednorodzicielskiej chromosomu X","synonyms":["UPD(X)"]},"cs":{"name":"Uniparentální dizomie chromozomu X","synonyms":["UPD(X)"]},"uk":{"name":"Однобатьківська дисомія хромосоми Х","synonyms":["UPD(X)"]},"zh":{"name":"X染色体单亲二倍体","synonyms":["X染色体单亲二倍体"]},"tr":{"name":"X kromozomu uniparental dizomisi","synonyms":["UPD(X)"]}},"xrefs":[{"source":"MONDO","code":"17011","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679684","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98159,"name":"Chromosome X structural anomaly syndrome","classifications":[147,156]}],"children":[{"orpha":261519,"name":"Maternal uniparental disomy of chromosome X syndrome","type":"Malformation syndrome"},{"orpha":261524,"name":"Paternal uniparental disomy of chromosome X syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}