Rare Disease Library

Hyperostosis corticalis generalisata

Van Buchem disease · Hyperphosphatasemia tarda

Behçet disease

BENTA disease

B-cell expansion with NF-kB and T-cell anergy disease

Best vitelliform macular dystrophy

BMD · BVMD

Blount disease

Infantile tibia vara · Osteochondrosis deformans tibiae

Brill-Zinsser disease

Brill disease · Recrudescent typhus

Buerger disease

Thromboangiitis obliterans

Canavan disease

ACY2 deficiency · Aminoacylase 2 deficiency

Classic glucose transporter type 1 deficiency syndrome

De Vivo disease · Classic GLUT1 deficiency syndrome

Gaucher disease

Acid beta-glucosidase deficiency · Glucocerebrosidase deficiency

Gorham-Stout disease

Gorham disease · Gorham syndrome

IgA Nephropathy

Berger disease · Berger's disease

Immunoglobulin A nephropathy

Berger disease · IgA nephropathy

Oguchi disease

Congenital stationary night blindness, Oguchi type · Oguchi syndrome

Polycythemia vera

Acquired primary erythrocytosis · Osler-Vaquez disease

Pontocerebellar hypoplasia type 1

Norman disease · PCH1

Progressive familial intrahepatic cholestasis type 1

Byler disease · FIC1 deficiency

Reticular dysgenesis

AK2 deficiency · De Vaal disease

Subacute sclerosing leukoencephalitis

Dawson encephalitis · SSPE

Wolman disease

X-linked lymphoproliferative disease

Duncan disease · Purtilo syndrome