Rare Disease Library

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

Autosomal dominant MSMD due to a partial deficiency

Autism spectrum disorder due to AUTS2 deficiency

ASD due to AUTS2 deficiency · AUTS2 syndrome

Autosomal dominant combined immunodeficiency due to ERBIN deficiency

AD-CID due to ERBIN deficiency · Autosomal dominant combined immunodeficiency due to erbb2 interacting protein deficiency

Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency

Autosomal dominant combined immunodeficiency due to partial glycoprotein 130 deficiency · Autosomal dominant combined immunodeficiency due to partial interleukin 6 signal transducer protein deficiency

Autosomal dominant distal hereditary motor neuropathy

Autosomal dominant dHMN · Autosomal dominant distal spinal muscular atrophy

Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency

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

Autosomal dominant hyperinsulinism due to Kir6.2 deficiency

Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency · Dominant KATP hyperinsulinism due to Kir6.2 deficiency

Autosomal dominant hyperinsulinism due to SUR1 deficiency

Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency

Autosomal dominant MSMD due to partial IFNgammaR1 deficiency · Autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency

Autosomal dominant MSMD due to partial IFNgammaR2 deficiency · Autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency

Autosomal dominant optic atrophy and cataract

Autosomal dominant optic atrophy type 3 · OPA3, autosomal dominant

Autosomal dominant pure spastic paraplegia

Autosomal dominant pure HSP · Autosomal dominant pure SPG

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 ataxia due to ubiquinone deficiency

ARCA2 · Autosomal recessive ataxia due to coenzyme Q10 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 hyper-IgE syndrome due to ZNF341 deficiency

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

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

Autosomal recessive MSMD due to a complete deficiency

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

Autosomal recessive MSMD due to a partial deficiency

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency

Autosomal recessive MSMD due to partial IFNgammaR1 deficiency · Autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency

Autosomal recessive MSMD due to partial IFNgammaR2 deficiency · Autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency

Autosomal recessive spastic paraplegia type 57

SPG57 · Spastic paraplegia due to partial TFG deficiency

Combined immunodeficiency due to partial RAG1 deficiency

CID due to partial RAG1 deficiency · CID with expansion of gamma delta T cells

Congenital hereditary endothelial dystrophy type I

Autosomal dominant CHED · Autosomal dominant congenital hereditary endothelial dystrophy

Fish-eye disease

FED · Partial LCAT deficiency

Hypoxanthine guanine phosphoribosyltransferase partial deficiency

HPRT deficiency, grade I · HPRT partial deficiency

Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency

MSMD due to partial IRF8 deficiency · MSMD due to partial interferon regulatory factor 8 deficiency

Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

MSMD due to partial STAT1 deficiency · MSMD due to partial signal transducer and activator of transcription 1 deficiency

Renal pseudohypoaldosteronism type 1

Renal PHA1 · Autosomal dominant pseudohypoaldosteronism type 1

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

Short stature due to partial GHR deficiency

Short stature due to partial growth hormone receptor deficiency