{"orpha":325546,"name":"Sex chromosome difference of sex development","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Sex chromosome DSD","Sex chromosome disorder of sex development"],"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-325546/","orphanet_url":"https://www.orpha.net/en/disease/detail/325546","names":{"fr":{"name":"Différence du développement sexuel due à une différence des chromosomes sexuels","synonyms":["ADS due à une anomalie des gonosomes","Anomalie du développement sexuel due à une anomalie des chromosomes sexuels","Anomalie du développement sexuel due à une anomalie des gonosomes","DSD due à une anomalie des chromosomes sexuels","DSD due à une anomalie des gonosomes","ADS due à une anomalie des chromosomes sexuels"]},"de":{"name":"Störung der Geschlechtsentwicklung mit aberranten Geschlechtschromosomen","synonyms":["DSD mit Aberrationen der Geschlechtschromosomen"]},"es":{"name":"Desarrollo sexual diferente por anomalías del cromosoma sexual","synonyms":["DSD por anomalías del cromosoma sexual","Trastorno del desarrollo sexual por anomalías del cromosoma sexual"]},"it":{"name":"Disturbo dello sviluppo sessuale dei cromosomi sessuali","synonyms":["DSD dei cromosomi sessuali"]},"nl":{"name":"Geslachtschromosoom geslachtsontwikkelingsstoornis","synonyms":["Geslachtschromosoom DSD"]},"pt":{"name":"doença cromossómica sexual do desenvolvimento sexual"},"pl":{"name":"Zaburzenie różnicowania płci związane z chromosomem płci","synonyms":["ZRP związane z chromosomem płci"]},"cs":{"name":"Porucha pohlavního vývoje spojená s poruchami pohlavních chromozomů","synonyms":["DSD spojená s poruchami pohlavních chromozomů"]},"uk":{"name":"Порушення статевої диференціації через порушення статевих хромосом","synonyms":["Порушення статевого розвитку статевих хромосом","ПСР статевих хромосом"]},"zh":{"name":"性染色体相关性发育障碍","synonyms":["性染色体相关DSD"]},"tr":{"name":"Cinsiyet gelişiminde cinsiyet kromozom bozukluğu","synonyms":["Cinsiyet kromozomu DSD"]}},"xrefs":[{"source":"MONDO","code":"0017975","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17975","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D058533","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2936421","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":90771,"name":"Difference of sex development","classifications":[147,185,193]},{"orpha":325690,"name":"Genetic difference of sex development","classifications":[156]}],"children":[{"orpha":1772,"name":"45,X/46,XY mixed gonadal dysgenesis","type":"Malformation syndrome"},{"orpha":96263,"name":"48,XXXY syndrome","type":"Malformation syndrome"},{"orpha":10,"name":"48,XXYY syndrome","type":"Malformation syndrome"},{"orpha":96264,"name":"49,XXXXY syndrome","type":"Malformation syndrome"},{"orpha":199310,"name":"Tetragametic chimerism syndrome","type":"Malformation syndrome"},{"orpha":881,"name":"Turner syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}