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"

5 matching diseasesClear search ×

46,XY complete gonadal dysgenesis

46,XY CGD · 46,XY pure gonadal dysgenesis

ORPHA:242

45,X/46,XY mixed gonadal dysgenesis

45,X/46,XY MGD · 45,X0/46,XY MGD

ORPHA:1772

46,XY difference of sex development

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

ORPHA:98085

46,XY partial gonadal dysgenesis

46,XY PGD · 46,XY partial testicular dysgenesis

ORPHA:251510

Chronic granulomatous disease

CGD · Chronic septic granulomatosis

ORPHA:379