Rare Disease Library

Inherited human prion disease

Familial prion disease · Genetic human prion disease

Addison disease

Primary Addison disease · Autoimmune adrenalitis

Bartonella bacilliformis infection

Bartonellosis due to infection with Bartonella bacilliformis · Carrion disease

Distal renal tubular acidosis

Classic RTA · Familial distal primary acidosis

Early-onset autosomal dominant Alzheimer disease

EOFAD · Early-onset familial autosomal dominant Alzheimer disease

Fabry disease

Alpha-galactosidase A deficiency · Anderson-Fabry disease

Familial Alzheimer-like prion disease

Familial aortic dissection

Annuloaortic ectasia · Cystic medial necrosis of aorta

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

Human prion disease

TSE · Transmissible spongiform encephalopathy

Paroxysmal kinesigenic dyskinesia

Familial PKD · Familial paroxysmal kinesigenic dyskinesia

Thiemann disease, familial form

Aseptic necrosis of phalangeal epiphyses · Osteochondrosis of phalangeal epiphyses