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"

51 matching diseasesClear search ×

Obesity due to congenital leptin deficiency

ORPHA:66628

Severe hemophilia A

Severe congenital factor VIII deficiency · Severe congenital F8 deficiency

ORPHA:169802

Severe hemophilia B

Severe congenital factor IX deficiency · Severe congenital F9 deficiency

ORPHA:169793