Rare Disease Library

Argininosuccinic aciduria

ASA deficiency · ASL deficiency

Adenosine monophosphate deaminase deficiency

AMP deaminase deficiency · Myoadenylate deaminase deficiency

Adenylosuccinate lyase deficiency

ADSL deficiency · Adenylosuccinase deficiency

Arginine vasopressin deficiency

CDI · Neurogenic diabetes insipidus

Argininemia

Arginase 1 deficiency · Arginase deficiency

Aromatase deficiency

Congenital estrogen deficiency

Carnosinase deficiency

Citrullinemia type I

ASS deficiency · Argininosuccinate synthase deficiency

Isolated succinate-CoQ reductase deficiency

Isolated mitochondrial respiratory chain complex II deficiency · Isolated succinate-coenzyme Q reductase deficiency

L-Arginine:glycine amidinotransferase deficiency

AGAT deficiency

Mucopolysaccharidosis type 6

ARSB deficiency · ASB deficiency