{"orpha":99324,"name":"Paternal uniparental disomy of chromosome 13 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["UPD(13)pat"],"definition":"Paternal uniparental disomy of chromosome 13 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-99324/","orphanet_url":"https://www.orpha.net/en/disease/detail/99324","names":{"fr":{"name":"Syndrome de disomie uniparentale paternelle du chromosome 13","synonyms":["UPD(13) paternelle","UPD(13)pat"],"definition":"Disomie uniparentale paternelle qui n'a probablement aucune expression phénotypique, sauf dans les cas d'homozygotie pour une mutation récessive de la maladie dont seul le père est porteur."},"de":{"name":"Uniparentale Disomie 13, paternale","synonyms":["UPD(13)pat"]},"es":{"name":"Síndrome de disomía uniparental paterna del cromosoma 13","synonyms":["UPD(13)pat"],"definition":"La disomía uniparental paterna del cromosoma 13 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 13","synonyms":["UPD(13)pat"],"definition":"La disomia uniparentale paterna del cromosoma 13 è una disomia di origine paterna che di solito non ha effetti sul fenotipo, ad eccezione dei casi di omozigosi per una mutazione responsabile di una malattia recessiva, di cui solo il padre è portatore."},"nl":{"name":"Paternale uniparentale disomie van chromosoom 13-syndroom","synonyms":["UPD(13)pat"],"definition":"Paternale uniparentale disomie van chromosoom 13 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 13"},"pl":{"name":"Zespół jednorodzicielskiej disomii chromosomu 13 pochodzenia ojcowskiego","synonyms":["UPD(13)pat"]},"cs":{"name":"Paternální uniparentální dizomie choromozomu 13","synonyms":["UPD(13)pat"]},"uk":{"name":"Батьківська уніпарентна дисомія хромосоми 13","synonyms":["UPD(13)pat"],"definition":"Paternal uniparental disomy of chromosome 13 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":"13号染色体父源单亲二体","synonyms":["父源13号染色体UPD"],"definition":"父源性13号染色体单亲二倍体中，两条同源染色体均来自父亲，除了父亲是隐性遗传病的携带者导致纯合突变致病，这种单亲二倍体很可能没有其他表型。"},"tr":{"name":"13. kromozomun paternal uniparental dizomisi","synonyms":["UPD (13) 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":"2090405609"},{"source":"MONDO","code":"0020468","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4722326","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}