Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

7 matching diseasesClear search ×

46,XY difference of sex development due to testicular steroidogenesis defect

46,XY disorder of sex development due to testicular steroidogenesis defect · 46,XY DSD due to testicular steroidogenesis defect

ORPHA:90787

46,XX testicular difference of sex development

46,XX testicular DSD · De la Chapelle syndrome

ORPHA:393

46,XY difference of sex development due to a cholesterol synthesis defect

46,XY DSD due to a cholesterol synthesis defect · 46,XY disorder of sex development due to a cholesterol synthesis defect

ORPHA:325511

46,XY difference of sex development due to a testosterone synthesis defect

46,XY DSD due to a testosterone synthesis defect · 46,XY disorder of sex development due to a testosterone synthesis defect

ORPHA:90783

46,XY difference of sex development due to adrenal and testicular steroidogenesis defect

46,XY DSD due to adrenal and testicular steroidogenesis defect · 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect

ORPHA:90786

46,XY ovotesticular difference of sex development

46,XY ovotesticular DSD · 46,XY ovotesticular disorder of sex development

ORPHA:325345

46,XY partial gonadal dysgenesis

46,XY PGD · 46,XY partial testicular dysgenesis

ORPHA:251510