Rare Disease Library

Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

Cardiovascular Gaucher disease · Gaucher disease type 3C

Genetic cardiac rhythm disease

Genetic neuromuscular disease

Inherited human prion disease

Familial prion disease · Genetic human prion disease

Non-genetic cardiac rhythm disease

Predisposition to invasive fungal disease due to CARD9 deficiency

Invasive candidiasis-deep dermatophytosis syndrome

Rare genetic cardiac disease

Rare genetic vascular disease