Additional Disease Briefs

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Rare Disease Database Reports Additional Rare Disease Briefs
autosomal recessive limb-girdle muscular dystrophy type 2U

Also known as: ISPD autosomal recessive limb-girdle muscular dystrophy, LGMD2U, MDDGC7, autosomal recessive limb-girdle muscular dystrophy caused by mutation in ISPD, autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency, muscular dystrophy limb-girdle type 2U, muscular dystrophy, limb-girdle, type 2U, muscular dystrophy-dystroglycanopathy (limb-girdle) type C7, muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7

autosomal recessive limb-girdle muscular dystrophy type 2W

Also known as: LGMD2W, LIMS2 autosomal recessive limb-girdle muscular dystrophy, autosomal recessive limb-girdle muscular dystrophy caused by mutation in LIMS2, muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue, muscular dystrophy, limb-girdle, type 2W, muscular dystrophy, limb-girdle, type 2w

autosomal recessive limb-girdle muscular dystrophy type 2X

Also known as: BVES autosomal recessive limb-girdle muscular dystrophy, LGMD2X, autosomal recessive limb-girdle muscular dystrophy caused by mutation in BVES, autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome, muscular dystrophy, limb-girdle, autosomal recessive 25, muscular dystrophy, limb-girdle, type 2X, muscular dystrophy, limb-girdle, type 2x

autosomal recessive limb-girdle muscular dystrophy type 2Y

Also known as: LGMD2Y, TOR1AIP1 autosomal recessive limb-girdle muscular dystrophy, autosomal recessive limb-girdle muscular dystrophy caused by mutation in TOR1AIP1, autosomal recessive muscular dystrophy due to LAP1B deficiency, autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency, muscular dystrophy with progressive weakness, distal contractures and rigid spine, muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, muscular dystrophy, limb-girdle, type 2Y, muscular dystrophy, limb-girdle, type 2y

autosomal recessive limb-girdle muscular dystrophy type R18

Also known as: LGMD2S, TRAPPC11 autosomal recessive limb-girdle muscular dystrophy, autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRAPPC11, autosomal recessive limb-girdle muscular dystrophy type 2S, limb-girdle muscular dystrophy type 2S, muscular dystrophy, limb-girdle, autosomal recessive 18, muscular dystrophy, limb-girdle, type 2S

autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency

Also known as: IFNGR2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency, MSMD due to complete IFNgammaR2 deficiency, MSMD due to complete interferon gamma receptor 2 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency, autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IFNGR2

autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency

Also known as: IMD42, RORC autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency, autosomal recessive MSMD due to complete RORgamma receptor defiency, autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in RORC, autosomal recessive primary immunodeficiency due to RORC mutation, immunodeficiency 42, immunodeficiency type 42

autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency

Also known as: IFNGR1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial 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 a partial deficiency caused by mutation in IFNGR1, autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency

autosomal recessive multiple pterygium syndrome

Also known as: EVMPS, Escobar syndrome, Escobar variant multiple pterygium syndrome, autosomal recessive multiple pterygium syndrome, autosomal recessive non-lethal multiple pterygium syndrome, multiple pterygium syndrome, multiple pterygium syndrome Escobar type, multiple pterygium syndrome nonlethal type, multiple pterygium syndrome, ESCOBAR variant, multiple pterygium syndrome, Nonlethal type, multiple pterygium syndrome, autosomal recessive, pterygium Universale, pterygium colli syndrome, pterygium syndrome, pterygium universale

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