Rare Disease Library

Subacute sclerosing leukoencephalitis

Dawson encephalitis · SSPE

BENTA disease

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

Best vitelliform macular dystrophy

BMD · BVMD

Brill-Zinsser disease

Brill disease · Recrudescent typhus

Canavan disease

ACY2 deficiency · Aminoacylase 2 deficiency

Gorham-Stout disease

Gorham disease · Gorham syndrome

Hyperostosis corticalis generalisata

Van Buchem disease · Hyperphosphatasemia tarda

Polycythemia vera

Acquired primary erythrocytosis · Osler-Vaquez disease

Progressive familial intrahepatic cholestasis type 1

Byler disease · FIC1 deficiency

Rare bone disease

Reticular dysgenesis

AK2 deficiency · De Vaal disease

Senior-Boichis syndrome

Boichis disease · Nephronophthisis-hepatic fibrosis syndrome

Steinert myotonic dystrophy

Myotonic dystrophy type 1 · Steinert disease

X-linked lymphoproliferative disease

Duncan disease · Purtilo syndrome