Rare Disease Library

Severe hemophilia B

Severe congenital factor IX deficiency · Severe congenital F9 deficiency

Susceptibility to respiratory infections associated with CD8alpha chain mutation

Familial CD8 deficiency

Tyrosinemia type 1

FAH deficiency · Fumarylacetoacetase deficiency

Xanthinuria type I

XDH deficiency · XO deficiency