Rare Disease Library

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

Autosomal recessive MSMD due to a complete deficiency

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 hyper-IgE syndrome due to STAT3 deficiency

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

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

Autosomal dominant MSMD due to a partial 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 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 axonal Charcot-Marie-Tooth disease due to copper metabolism defect

Autosomal recessive axonal CMT due to copper metabolism defect

Autosomal recessive cerebellar ataxia due to a DNA repair defect

Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency

SCAR17 · Spinocerebellar ataxia autosomal recessive type 17

Autosomal recessive cerebellar ataxia due to STUB1 deficiency

SCAR16 · Spinocerebellar ataxia autosomal recessive type 16

Autosomal recessive cerebellar ataxia with late-onset spasticity

Autosomal recessive cerebellar ataxia due to GBA2 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 complex spastic paraplegia

Autosomal recessive complex HSP · Autosomal recessive complex SPG

Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction

Autosomal recessive complex SPG due to Kennedy pathway dysfunction · Autosomal recessive spastic paraplegia type 81

Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency

Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency · SCAR18

Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency

Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency · Autosomal recessive spinocerebellar ataxia type 13

Autosomal recessive distal hereditary motor neuropathy

Autosomal recessive distal spinal muscular atrophy · Autosomal recessive dHMN

Autosomal recessive distal renal tubular acidosis

AR dRTA · Autosomal recessive distal RTA

Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency

AR-HIES due to ZNF341 deficiency · Autosomal recessive HIES due to ZNF341 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 limb-girdle muscular dystrophy type 2R

Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency · LGMD2R

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 severe congenital neutropenia due to CSF3R deficiency

Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency

Combined immunodeficiency due to CD27 deficiency

CD27 deficiency · Autosomal recessive lymphoproliferative disease due to CD27 deficiency

Combined immunodeficiency due to ITK deficiency

ITK deficiency · Autosomal recessive lymphoproliferative disease due to ITK deficiency

Congenital hereditary endothelial dystrophy type II

Congenital hereditary endothelial dystrophy type 2 · Infantile hereditary endothelial dystrophy

Dopa-responsive dystonia due to sepiapterin reductase deficiency

Autosomal recessive sepiapterin reductase-deficient DRD · DRD due to SRD

Familial LCAT deficiency

Complete LCAT deficiency · FLD

Generalized pseudohypoaldosteronism type 1

Autosomal recessive pseudohypoaldosteronism type 1 · Autosomal recessive PHA1

Immunodeficiency due to a complement regulatory deficiency

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome

Autosomal recessive intellectual disability due to TRAPPC9 deficiency

Lesch-Nyhan syndrome

HPRT complete deficiency · HPRT deficiency grade IV

Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency

MSMD due to complete IFNgammaR1 deficiency · MSMD due to complete interferon gamma receptor 1 deficiency

Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency

MSMD due to complete IFNgammaR2 deficiency · MSMD due to complete interferon gamma receptor 2 deficiency

Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency

MSMD due to complete IL12B deficiency · MSMD due to complete interleukin 12B deficiency

Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency

MSMD due to complete IL12RB1 deficiency · MSMD due to complete interleukin 12 receptor beta 1 deficiency

Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

MSMD due to complete ISG15 deficiency

Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency

MSMD due to complete RORgamma receptor defiency · Primary immunodeficiency due to RORC mutation