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"

3 matching diseasesClear search ×

Chronic primary adrenal insufficiency

CPAI · Chronic adrenocorticoid insufficiency

ORPHA:101959

Cerebral proliferative angiopathy

CPA · Holohemispheric giant cerebral arteriovenous malformation

ORPHA:692271

Congenital pulmonary airway malformation

CCAM · CPAM

ORPHA:2444