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"

13 matching diseasesClear search ×

HJV or HAMP-related hemochromatosis

Juvenile hemochromatosis · Hemochromatosis type 2

ORPHA:79230

Calcifying aponeurotic fibroma

Juvenile aponeurotic fibromatosis · Keasby tumor

ORPHA:199260

Digenic hemochromatosis

ORPHA:648581

Juvenile dermatomyositis

Juvenile DM

ORPHA:93672

Juvenile hyaline fibromatosis

Murray-Puretic-Drescher syndrome · Puretic syndrome

ORPHA:2028

Juvenile nephropathic cystinosis

Intermediate cystinosis · Juvenile cystinosis

ORPHA:411634

Neonatal hemochromatosis

ORPHA:446

Non-HFE-related hemochromatosis

ORPHA:648569

OBSOLETE: Hemochromatosis type 4

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

ORPHA:139491

OBSOLETE: Hemochromatosis type 5

ORPHA:447792

Rare hereditary hemochromatosis

Iron overload disease

ORPHA:220489

SLC40A1-related hemochromatosis

ORPHA:647834

TFR2-related hemochromatosis

Hereditary hemochromatosis type 3

ORPHA:225123