Rare Disease Library

Familial sinus histiocytosis with massive lymphadenopathy

Familial Rosaï-Dorfman disease · Familial SHML

Early-onset autosomal dominant Alzheimer disease

EOFAD · Early-onset familial autosomal dominant Alzheimer disease

Hereditary hyperekplexia

Congenital stiff man syndrome · Familial startle disease

Inherited human prion disease

Familial prion disease · Genetic human prion disease

Rosaï-Dorfman disease

Destombes-Rosaï-Dorfman disease · Rosaï-Dorfman-Destombes disease

Thiemann disease, familial form

Aseptic necrosis of phalangeal epiphyses · Osteochondrosis of phalangeal epiphyses