Rare Disease Library

Hereditary hyperekplexia

Congenital stiff man syndrome · Familial startle disease

Autosomal systemic lupus erythematosus

Autosomal SLE · Disseminated lupus erythematosus

Early-onset autosomal dominant Alzheimer disease

EOFAD · Early-onset familial autosomal dominant Alzheimer disease

Familial Alzheimer-like prion disease

Familial sinus histiocytosis with massive lymphadenopathy

Familial Rosaï-Dorfman disease · Familial SHML

Inherited human prion disease

Familial prion disease · Genetic human prion disease

Stargardt disease

Fundus flavimaculatus · Stargardt 1

Thiemann disease, familial form

Aseptic necrosis of phalangeal epiphyses · Osteochondrosis of phalangeal epiphyses