Rare Disease Library

Combined immunodeficiency due to ZAP70 deficiency

Zeta-associated-protein 70 deficiency

Apolipoprotein A-I deficiency

ApoA-I deficiency · Familial apoA-I deficiency

Citrullinemia type I

ASS deficiency · Argininosuccinate synthase deficiency

Combined immunodeficiency due to Moesin deficiency

MSN-related combined immunodeficiency · CID due to Moesin deficiency

Congenital factor II deficiency

Dysprothrombinemia · Hypoprothrombinemia

Isolated thyrotropin-releasing hormone deficiency

Isolated TRF deficiency · Isolated TRH deficiency

NAD(P)HX epimerase deficiency

Apolipoprotein A-I binding protein deficiency

Protein S acquired deficiency