Rare Disease Library

L-Arginine:glycine amidinotransferase deficiency

AGAT deficiency

Medium chain acyl-CoA dehydrogenase deficiency

ACADM deficiency · Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency

Mild hemophilia A

Mild congenital factor VIII deficiency · Mild congenital F8 deficiency

Mild hemophilia B

Mild congenital factor IX deficiency · Mild congenital F9 deficiency

Moderate hemophilia B

Moderate congenital F9 deficiency · Moderate congenital factor IX deficiency

Mucopolysaccharidosis type 6

ARSB deficiency · ASB deficiency

Non-acquired isolated growth hormone deficiency

Congenital IGHD · Congenital isolated GH deficiency

Non-acquired pituitary hormone deficiency

OBSOLETE: Atypical hemolytic uremic syndrome with I factor anomaly

OBSOLETE: Hemolytic uremic syndrome without diarrhea with I factor anomaly · OBSOLETE: aHUS with I factor anomaly

Progressive familial intrahepatic cholestasis type 1

Byler disease · FIC1 deficiency

Protein S acquired deficiency

Rare acquired deficiency anemia

Reticular dysgenesis

AK2 deficiency · De Vaal disease

Severe combined immunodeficiency due to adenosine deaminase deficiency

ADA deficiency · SCID due to adenosine deaminase deficiency

Severe hemophilia B

Severe congenital factor IX deficiency · Severe congenital F9 deficiency

Short chain acyl-CoA dehydrogenase deficiency

ACADS deficiency · SCAD deficiency

Tyrosinemia type 1

FAH deficiency · Fumarylacetoacetase deficiency

Xanthinuria type I

XDH deficiency · XO deficiency