Rare Disease Library

Transcobalamin deficiency

Inherited deficiency of transcobalamin · Transcobalamin II deficiency

Transcobalamin I deficiency

Haptocorrin deficiency · TCI deficiency

Trehalase deficiency

Isolated trehalose intolerance

Tyrosinemia type 1

FAH deficiency · Fumarylacetoacetase deficiency

Very long chain acyl-CoA dehydrogenase deficiency

VLCAD deficiency · VLCADD

X-linked agammaglobulinemia

BTK-deficiency · Bruton type agammaglobulinemia

X-linked creatine transporter deficiency

Creatine transporter deficiency · SLC6A8 deficiency

Xanthinuria type I

XDH deficiency · XO deficiency