{"orpha":96195,"name":"Paternal uniparental disomy of chromosome 21 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["UPD(21)pat"],"definition":"Paternal uniparental disomy of chromosome 21 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96195/","orphanet_url":"https://www.orpha.net/en/disease/detail/96195","names":{"fr":{"name":"Syndrome de disomie uniparentale paternelle du chromosome 21","synonyms":["UPD(21) paternelle","UPD(21)pat"],"definition":"Disomie uniparentale d'origine paternelle qui n'a probablement pas d'expression phénotypique sauf en cas d'homozygotie pour une mutation récessive dont le père est le seul porteur."},"de":{"name":"Uniparentale Disomie 21, paternale","synonyms":["UPD(21)pat"],"definition":"Die paternale uniparentale Disomie von Chromosom 21 ist eine uniparentale Disomie väterlichen Ursprungs, die höchstwahrscheinlich keine phänotypische Ausprägung hat (außer in Fällen von Homozygotie für eine rezessive Krankheitsmutation, für die nur der Vater ein Träger ist)."},"es":{"name":"Síndrome de disomía uniparental paterna del cromosoma 21","synonyms":["UPD(21)pat"],"definition":"La disomía uniparental paterna del cromosoma 21 es una disomía uniparental de origen paterno que probablemente no tenga ninguna expresión fenotípica, excepto en el caso de enfermedades recesivas de las que sólo el padre es portador y en el que esta disomía implicaría que la mutación estuviese en homocigosis."},"it":{"name":"Sindrome disomia uniparentale paterna del cromosoma 21","synonyms":["UPD(21)pat"],"definition":"La disomia uniparentale paterna del cromosoma 21 è una disomia uniparentale di origine paterna che non ha effetti significativi sul fenotipo, ad eccezione dei casi di omozigosi per una mutazione recessiva correlata ad una malattia, di cui solo il padre è portatore."},"nl":{"name":"Paternale uniparentale disomie van chromosoom 21-syndroom","synonyms":["UPD(21)pat"],"definition":"Paternale uniparentale disomie van chromosoom 21 is een uniparentale disomie van paternale oorsprong die waarschijnlijk geen fenotypische expressie vertoont, behalve in gevallen van homozygositeit voor een recessieve ziektemutatie waarvan enkel de vader een drager is."},"pt":{"name":"Dissomia uniparental de origem paterna, cromossoma 21"},"pl":{"name":"Zespół jednorodzicielskiej disomii chromosomu 21 pochodzenia ojcowskiego","synonyms":["UPD(21)pat"]},"cs":{"name":"Paternální uniparentální dizomie chromozomu 21","synonyms":["UPD(21)pat"]},"uk":{"name":"Батькова уніпарентна дисомія хромосоми 21","synonyms":["UPD(21)pat"],"definition":"Paternal uniparental disomy of chromosome 21 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier."},"zh":{"name":"父源性21号染色体单亲二体","synonyms":["父源性UPD(21)"],"definition":"21号染色体父源单亲二倍体是指21号染色体的两条同源染色体均来自父亲，如果父亲是携带者，可导致隐性疾病突变纯合子情况，此外很可能没有任何表型。"},"tr":{"name":"21. kromozomun paternal uniparental dizomisi","synonyms":["UPD (21) pat"]}},"xrefs":[{"source":"ICD-10","code":"Q99.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD45.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2038740231"},{"source":"MONDO","code":"0019925","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707801","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98154,"name":"Paternal uniparental disomy syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":null}