Rare Disease Library

OBSOLETE: X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency

OBSOLETE: X-linked MSMD due to NEMO deficiency · OBSOLETE: X-linked MSMD due to IKBKG deficiency

Charcot-Marie-Tooth disease type 2B5

SEOAN due to NEFL deficiency · AR-CMT2B5

Dysferlin-related limb-girdle muscular dystrophy R2

LGMD2B · Limb-girdle muscular dystrophy due to dysferlin deficiency

FKRP-related limb-girdle muscular dystrophy R9

Autosomal recessive limb-girdle muscular dystrophy type 2I · LGMD2I

Limb-girdle muscular dystrophy due to POMK deficiency

LGMD due to POMK deficiency

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 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

OBSOLETE: 3-Phosphoglycerate dehydrogenase deficiency

OBSOLETE: PHGDH deficiency

OBSOLETE: Anemia due to adenosine triphosphatase deficiency

OBSOLETE: Cholesterol-ester transfer protein deficiency

OBSOLETE: CEPT deficiency · OBSOLETE: Familial hyperalphalipoproteinemia type I

OBSOLETE: Common variable immunodeficiency due to TNFR deficiency

OBSOLETE: CVID due to TNFR deficiency

OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1

OBSOLETE: 18-hydroxylase deficiency · OBSOLETE: Aldosterone synthase deficiency

OBSOLETE: Glycogen storage disease due to acid maltase deficiency, adult onset

OBSOLETE: Glycogenosis due to acid maltase deficiency, adult onset · OBSOLETE: GSD type 2, adulte onset

OBSOLETE: Glycogen storage disease due to acid maltase deficiency, juvenile onset

OBSOLETE: Glycogenosis due to acid maltase deficiency, juvenile onset · OBSOLETE: GSD type 2, juvenile onset

OBSOLETE: Immunoglobulin A1 deficiency

OBSOLETE: IgA1 deficiency

OBSOLETE: Immunoglobulin A2 deficiency

OBSOLETE: IgA2 deficiency

OBSOLETE: Phosphoenolpyruvate carboxykinase 1 deficiency

OBSOLETE: PEPCK1 deficiency

OBSOLETE: Phosphoenolpyruvate carboxykinase 2 deficiency

OBSOLETE: PEPCK2 deficiency

OBSOLETE: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency

OBSOLETE: 17b-hydroxysteroid dehydrogenase deficiency type 10 · OBSOLETE: 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency

OBSOLETE: X-linked acrogigantism due to a point mutation

OBSOLETE: Familial infantile gigantism due to a point mutation · OBSOLETE: X-LAG (X-linked acrogigantism) due to a point mutation

OBSOLETE: X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency

OBSOLETE: X-linked MSMD due to CYBB deficiency

Postural orthostatic tachycardia syndrome due to NET deficiency

Orthostatic intolerance due to NET deficiency · POTS due to NET deficiency

Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency

Severe MSMD due to complete IFNG deficiency · Severe mendelian susceptibility to mycobacterial diseases due to complete interferon gamma deficiency

Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiency

Severe mendelian susceptibility to mycobacterial diseases due to complete interferon regulatory factor 1 deficiency · Severe MSMD due to complete IRF1 deficiency

Telethonin-related limb-girdle muscular dystrophy R7

LGMD2G · Limb-girdle muscular dystrophy due to telethonin deficiency

TRIM32-related limb-girdle muscular dystrophy R8

Autosomal recessive limb-girdle muscular dystrophy type 2H · LGMD type 2H

X-linked combined immunodeficiency due to SASH3 deficiency

X-linked CID due to SASH3 deficiency

X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency

X-linked CVID phenotype due to SH3KBP1 deficiency · X-linked common variable immunodeficiency phenotype due to SH3-domain kinase-binding protein 1 deficiency

X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency

DEX · X-linked immune dysregulation with inflammatory bowel disease due to E74 like ETS transcription factor 4 deficiency