Rare Disease Library

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

Farber disease

Acid ceramidase deficiency · Farber lipogranulomatosis

Hereditary hyperekplexia

Congenital stiff man syndrome · Familial startle disease

Inherited human prion disease

Familial prion disease · Genetic human prion disease

Posterior cortical atrophy

Benson syndrome · Biparietal Alzheimer disease

Thiemann disease, familial form

Aseptic necrosis of phalangeal epiphyses · Osteochondrosis of phalangeal epiphyses