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"

54 matching diseasesClear search ×

Non-acquired combined pituitary hormone deficiency

Congenital combined pituitary hormone deficiency · Congenital hypopituitarism

ORPHA:467

Non-acquired isolated growth hormone deficiency

Congenital IGHD · Congenital isolated GH deficiency

ORPHA:631

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

Xp21 deletion syndrome

Del(X)(p21) · Xp21 contiguous gene deletion syndrome

ORPHA:261476