Rare Disease Library

Citrullinemia type II

Adult-onset citrin deficiency · CTLN2

Acute neonatal citrullinemia type I

Early-onset citrullinemia type I · Acute neonatal citrullinemia type 1

Citrullinemia

Citrullinemia type I

ASS deficiency · Argininosuccinate synthase deficiency

Dubin-Johnson syndrome

Dubin-Sprinz disease · Hyperbilirubinemia type 2

Hyperprolinemia type 2

Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency

Late-onset citrullinemia type I

Late-onset citrullinemia type 1

Simple cryoglobulinemia

Cryoglobulinemia type 1

Tyrosinemia type 1

FAH deficiency · Fumarylacetoacetase deficiency

Tyrosinemia type 2

Keratosis palmoplantaris-corneal dystrophy syndrome · Oculocutaneous tyrosinemia

Tyrosinemia type 3

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