{"orpha":399786,"name":"Male infertility with spermatogenesis disorder due to single gene mutation","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-399786/","orphanet_url":"https://www.orpha.net/en/disease/detail/399786","names":{"fr":{"name":"Infertilité masculine avec anomalie de la spermatogenèse due à une mutation ponctuelle"},"de":{"name":"Männliche Infertilität mit Störung der Spermatogenese durch Mutation eines einzelnen Gens"},"es":{"name":"Infertilidad masculina con un trastorno de la espermatogénesis por una única mutación genética"},"it":{"name":"Sterilità maschile con difetto della spermatogenesi da mutazione di un singolo gene"},"nl":{"name":"Mannelijke onvruchtbaarheid met stoornis van spermatogenese door mutatie van een enkel gen"},"pt":{"name":"Infertilidade masculina com alteração de espermatogénese por mutação num único gene"},"pl":{"name":"Niepłodność męska z zaburzeniami spermatogenezy z powodu mutacji pojedyńczego genu"},"cs":{"name":"Mužská neplodnost s poruchami spermatogeneze v důsledku mutace v jednom genu","synonyms":["Monogenní mužská neplodnost s poruchami spermatogeneze"]},"uk":{"name":"Чоловіче безпліддя з порушенням сперматогенезу внаслідок мутації одного гена"},"zh":{"name":"男性不育伴单基因突变所致生精障碍"},"tr":{"name":"Tek gen mutasyonuna bağlı spermatogenez bozukluğu ile seyreden erkek infertilitesi"}},"xrefs":[{"source":"MONDO","code":"18392","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681166","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12513","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":399775,"name":"Male infertility with spermatogenesis disorder","classifications":[156,201]}],"children":[{"orpha":399805,"name":"Male infertility with azoospermia or oligozoospermia due to single gene mutation","type":"Disease"},{"orpha":399808,"name":"Male infertility with teratozoospermia due to single gene mutation","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}