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"

2 matching diseasesClear search ×

Symptomatic form of HFE-related hemochromatosis

Symptomatic form of classic hemochromatosis · Symptomatic form of hemochromatosis type 1

ORPHA:465508

Digenic hemochromatosis

ORPHA:648581