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"

10 matching diseasesClear search ×

46,XX testicular difference of sex development

46,XX testicular DSD · De la Chapelle syndrome

ORPHA:393

46,XX difference of sex development

46,XX DSD · 46,XX disorder of sex development

ORPHA:2982

46,XX ovotesticular difference of sex development

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

ORPHA:2138

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,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

Genetic 46,XX difference of sex development

Genetic 46,XX DSD · Genetic 46,XX disorder of sex development

ORPHA:325697

Testicular agenesis

Bilateral anorchia

ORPHA:325124

Testicular seminomatous germ cell tumor

Testicular seminoma · Seminoma of testis

ORPHA:842

Testicular teratoma

Teratoma of the testis

ORPHA:363483