Rare Disease Library

Tyrosinemia type 3

Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency · Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency

Citrullinemia type I

ASS deficiency · Argininosuccinate synthase deficiency

Citrullinemia type II

Adult-onset citrin deficiency · CTLN2

Congenital dyserythropoietic anemia type III

CDA III · CDA type 3

Focal facial dermal dysplasia type III

FFDD type III · FFDD3

Hyperlysinemia

Hyperlysinemia type I · Lysine alpha-ketoglutarate reductase deficiency

Mixed cryoglobulinemia type II

MC type II

Mixed cryoglobulinemia type III

MC type III

Proximal spinal muscular atrophy type 3

Juvenile spinal muscular atrophy · Kugelberg-Welander disease

Saccharopinuria

Hyperlysinemia type II · Saccharopine dehydrogenase deficiency

Tyrosinemia type 1

FAH deficiency · Fumarylacetoacetase deficiency

Tyrosinemia type 2

Keratosis palmoplantaris-corneal dystrophy syndrome · Oculocutaneous tyrosinemia