{"orpha":443090,"name":"46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect"],"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-443090/","orphanet_url":"https://www.orpha.net/en/disease/detail/443090","names":{"fr":{"name":"Différence du développement sexuel 46,XY par défaut de la voie alterne de la biosynthèse de la dihydrotestosterone","synonyms":["Anomalie du développement sexuel 46,XY par défaut de la voie alterne de la biosynthèse de la dihydrotestosterone"]},"de":{"name":"Störung der Geschlechtsentwicklung 46,XY, durch Dihydrotestosteron Back-Door-Pathway-Biosynthesedefekt"},"es":{"name":"Anomalía del desarrollo sexual 46,XY por un defecto de la biosíntesis de dihidrotestosterona por la via alterna","synonyms":["ADS 46,XY por un defecto de la biosíntesis de dihidrotestosterona por la vía alterna","Desarrollo sexual diferente 46,XY por un defecto de la biosíntesis de dihidrotestosterona por la vía alterna"]},"it":{"name":"Disturbo 46,XY dello sviluppo sessuale da difetto della via alternativa della biosintesi del diidrotestosterone"},"nl":{"name":"46,XY-geslachtsontwikkelingsstoornis door defect van alternatieve biosynthese van dihydrotestosteron"},"pt":{"name":"Doença 46, XY do desenvolvimento sexual devido ao defeito de biossíntese da via da porta das traseiras da dihidrotestosterona"},"pl":{"name":"Zaburzenie różnicowania płci z kariotypem 46,XY z powodu defektu szlaku \"backdoor\" biosyntezy dihydrotestosteronu","synonyms":["46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect"]},"cs":{"name":"46,XY porucha pohlavního vývoje způsobená defektem postranní dráhy biosyntézy dihydrotestosteronu","synonyms":["46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect"]},"uk":{"name":"46,XY порушення статевої диференціації, зумовлене дефектом біосинтезу обхідного шляху дигідротестостерону","synonyms":["46,XY порушення статевого розвитку внаслідок дефекту біосинтезу дигідротестостерону зворотного шляху"]},"zh":{"name":"双氢睾酮合成途径缺陷所致46,XY 性发育障碍"},"tr":{"name":"Dihidrotestosteron arka yolağındaki biyosentez defektine bağlı 46,XY cinsiyet gelişim bozukluğu"}},"xrefs":[{"source":"MONDO","code":"18618","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5816690","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":325357,"name":"46,XY difference of sex development due to impaired androgen production","classifications":[147,156,185,193,233]}],"children":[{"orpha":443087,"name":"46,XY difference of sex development due to testicular 17,20-desmolase deficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}