Rare Disease Library

Hereditary hemorrhagic telangiectasia

HHT · Rendu-Osler disease

Alpha-N-acetylgalactosaminidase deficiency

NAGA deficiency · Schindler disease

Classic eosinophilic pustular folliculitis

Ofuji disease · Classic EPF

Congenital factor V deficiency

Owren disease · Parahemophilia

Darier disease

Darier-White disease · Keratosis follicularis

Erythema palmare hereditarium

Lane disease · Red palms disease

Hurler syndrome

Hurler disease · MPS1H

Infantile mercury poisoning

Erythroedema polyneuritis · Feer disease

Multiple myeloma

Kahler disease · Medullary plasmacytoma

Ollier disease

Multiple Enchondromatosis type I · Enchondromatosis Spranger type I

Osteochondrosis of the tarsal bone

Avascular necrosis of the tarsal bone · Kohler disease

Polycythemia vera

Acquired primary erythrocytosis · Osler-Vaquez disease

Progressive familial intrahepatic cholestasis type 1

Byler disease · FIC1 deficiency

Proximal myotonic myopathy

Myotonic dystrophy type 2 · Proximal myotonic dystrophy

Rare renal disease