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"

9 matching diseasesClear search ×

Polycythemia vera

Acquired primary erythrocytosis · Osler-Vaquez disease

ORPHA:729

Hereditary hemorrhagic telangiectasia

HHT · Rendu-Osler disease

ORPHA:774

Hurler syndrome

Hurler disease · MPS1H

ORPHA:93473

Infantile mercury poisoning

Erythroedema polyneuritis · Feer disease

ORPHA:247165

Multiple myeloma

Kahler disease · Medullary plasmacytoma

ORPHA:29073

Ollier disease

Multiple Enchondromatosis type I · Enchondromatosis Spranger type I

ORPHA:296

Osteochondrosis of the tarsal bone

Avascular necrosis of the tarsal bone · Kohler disease

ORPHA:563991

Progressive familial intrahepatic cholestasis type 1

Byler disease · FIC1 deficiency

ORPHA:79306

Reticular dysgenesis

AK2 deficiency · De Vaal disease

ORPHA:33355