Rare Disease Library

Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency

AR-HIES due to ZNF341 deficiency · Autosomal recessive HIES due to ZNF341 deficiency

Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency

AD-HIES due to STAT3 deficiency · Autosomal dominant HIES due to STAT3 deficiency

Autosomal recessive ataxia due to PEX10 deficiency

Mild peroxisomal disorder due to PEX10 deficiency

Autosomal recessive ataxia due to PEX16 deficiency

Mild peroxisomal disorder due to PEX16 deficiency

Autosomal recessive ataxia due to PEX2 deficiency

Mild peroxisomal disorder due to PEX2 deficiency

Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency

Stüve-Wiedemann syndrome type 2 · AR CID due to complete GP130 deficiency

Autosomal recessive combined immunodeficiency due to IL6R deficiency

AR CID due to IL6R deficiency · Autosomal recessive combined immunodeficiency due to IL6 receptor protein deficiency

Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency

Autosomal recessive combined immunodeficiency due to partial IL6 signal transducer protein deficiency · AR CID due to partial IL6ST deficiency

Autosomal recessive hyperinsulinism due to Kir6.2 deficiency

Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency

Autosomal recessive hyperinsulinism due to SUR1 deficiency

Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency

Autosomal recessive MSMD due to a partial deficiency

Severe hereditary thrombophilia due to congenital protein C deficiency

Autosomal recessive thrombophilia due to congenital protein C deficiency · Autosomal recessive thrombophilia due to PC deficiency

Severe hereditary thrombophilia due to congenital protein S deficiency

Autosomal recessive thrombophilia due to congenital protein S deficiency

TOR1AIP1-related limb-girdle muscular dystrophy

TOR1AIP1-related LGMD · LGMD type 2Y