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 ×

Genetic hyperferritinemia without iron overload

Benign hyperferritinemia

ORPHA:254704

Familial hypocalciuric hypercalcemia

FBH · FBHH

ORPHA:405

Hereditary hyperferritinemia-cataract syndrome

Hereditary hyperferritinemia-cataract disease · HHCS

ORPHA:163