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"

16 matching diseasesClear search ×

HJV or HAMP-related hemochromatosis

Juvenile hemochromatosis · Hemochromatosis type 2

ORPHA:79230

Desmoid tumor

aggressive fibromatosis · desmoid-type fibromatosis

ORPHA:ORPHA:873

Digenic hemochromatosis

ORPHA:648581

Full NF2-related schwannomatosis

Nonmosaic neurofibromatosis type 2 · Nonmosaic NF2-related schwannomatosis

ORPHA:637

Genochondromatosis type 1

ORPHA:85197

Genochondromatosis type 2

ORPHA:93398

Mosaic NF2-related schwannomatosis

Mosaic neurofibromatosis type 2 · Mosaic NF2

ORPHA:634475

Neonatal hemochromatosis

ORPHA:446

Neurofibromatosis type 1

neurofibromatosis type I · NF-1

ORPHA:ORPHA:636

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

Symptomatic form of HFE-related hemochromatosis

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

ORPHA:465508

TFR2-related hemochromatosis

Hereditary hemochromatosis type 3

ORPHA:225123