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"

6 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

HJV or HAMP-related hemochromatosis

Juvenile hemochromatosis · Hemochromatosis type 2

ORPHA:79230

OBSOLETE: Hemochromatosis type 4

OBSOLETE: Ferroportin disease · OBSOLETE: Hemochromatosis due to defect in ferroportin

ORPHA:139491

OBSOLETE: Hemochromatosis type 5

ORPHA:447792

TFR2-related hemochromatosis

Hereditary hemochromatosis type 3

ORPHA:225123