{"orpha":325511,"name":"46,XY difference of sex development due to a cholesterol synthesis defect","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["46,XY DSD due to a cholesterol synthesis defect","46,XY disorder of sex development due to a cholesterol synthesis 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-325511/","orphanet_url":"https://www.orpha.net/en/disease/detail/325511","names":{"fr":{"name":"Différence du développement sexuel 46,XY par défaut de synthèse du cholestérol","synonyms":["ADS 46,XY par défaut de synthèse du cholestérol","Anomalie du développement sexuel 46,XY par défaut de synthèse du cholestérol","DSD 46,XY par défaut de synthèse du cholestérol"]},"de":{"name":"Störung der Geschlechtsentwicklung 46,XY, durch Cholesterol-Synthese-Defekt","synonyms":["46,XY DSD durch Cholesterol-Synthese-Defekt"]},"es":{"name":"Desarrollo sexual diferente 46,XY por un defecto de la síntesis del colesterol","synonyms":["DSD 46,XY por un defecto de la síntesis del colesterol","Trastarno del desarrollo sexual 46,XY por un defecto de la síntesis del colesterol"]},"it":{"name":"Disturbo dello sviluppo sessuale 46,XY da difetto della sintesi del colesterolo","synonyms":["DSD 46,XY da difetto della sintesi del colesterolo"]},"nl":{"name":"46,XY-geslachtsontwikkelingsstoornis door defect van cholesterolsynthese","synonyms":["46,XY-DSD door defect van cholesterolsynthese"]},"pt":{"name":"Doença do desenvolvimento sexual 46,XY devida a defeito de síntese de colesterol"},"pl":{"name":"Zaburzenie różnicowania płci z kariotypem 46,XY z powodu defektu syntezy cholesterolu","synonyms":["ZRP 46,XY z powodu defektu syntezy cholesterolu"]},"cs":{"name":"46,XY porucha pohlavního vývoje způsobená poruchou cholesterol syntázy","synonyms":["46,XY DSD způsobená poruchou cholesterol syntázy"]},"uk":{"name":"46,XY порушення статевої диференціації, зумовлене дефектом синтезу холестерину","synonyms":["46,XY порушення статевого розвитку через дефект синтезу холестерину","46,XY ПСР через дефект синтезу холестерину"]},"zh":{"name":"胆固醇合成缺陷所致性发育障碍","synonyms":["46，XY胆固醇合成缺陷所致DSD"]},"tr":{"name":"Kolesterol sentez kusuruna bağlı 46,XY cinsiyet gelişim bozukluğu","synonyms":["Kolesterol sentez defektine bağlı 46,XY DSD"]}},"xrefs":[{"source":"MONDO","code":"17971","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679868","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":90783,"name":"46,XY difference of sex development due to a testosterone synthesis defect","classifications":[147,156,185,193,233]}],"children":[{"orpha":818,"name":"Smith-Lemli-Opitz syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}