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База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

Autosomal dominant intermediate Charcot-Marie-Tooth disease type A

ORPHA:100043Disease
Autosomal dominant

Autosomal dominant intermediate Charcot-Marie-Tooth disease type B

ORPHA:100044Disease
Autosomal dominant

Autosomal dominant intermediate Charcot-Marie-Tooth disease type C

ORPHA:100045Disease
Autosomal dominant

Autosomal dominant intermediate Charcot-Marie-Tooth disease type D

ORPHA:100046Disease
Autosomal dominant

Autosomal dominant intermediate Charcot-Marie-Tooth disease type E

ORPHA:93114Disease
Autosomal dominant, Not applicable

Autosomal dominant intermediate Charcot-Marie-Tooth disease type F

ORPHA:352670Disease
Autosomal dominant

Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain

ORPHA:324585Disease
Autosomal dominant

Autosomal dominant isolated diffuse palmoplantar keratoderma

ORPHA:98349Cat.
Autosomal dominant

Autosomal dominant keratitis

ORPHA:2334Disease
Autosomal dominant

Autosomal dominant limb-girdle muscular dystrophy

ORPHA:102014Cat.
Autosomal dominant

Autosomal dominant macrothrombocytopenia

ORPHA:140957Disease
Autosomal dominant

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

ORPHA:319543Cat.
Autosomal dominant

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

ORPHA:319581Disease
Autosomal dominant

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

ORPHA:319589Disease
Autosomal dominant

Autosomal dominant mitochondrial myopathy with exercise intolerance

ORPHA:457050Disease
Autosomal dominant

Autosomal dominant multiple pterygium syndrome

ORPHA:65743Malform.
Autosomal dominant

Autosomal dominant myoglobinuria

ORPHA:99846Disease
Autosomal dominant

Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome

ORPHA:440354Malform.
Autosomal dominant

Autosomal dominant myosin storage myopathy

ORPHA:636965Clin. sub.
Autosomal dominant

Autosomal dominant neovascular inflammatory vitreoretinopathy

ORPHA:329211Disease
Autosomal dominant

Autosomal dominant non-syndromic intellectual disability

ORPHA:178469Etio. sub.
Autosomal dominant

Autosomal dominant omodysplasia

ORPHA:93328Clin. sub.
Autosomal dominant

Autosomal dominant optic atrophy

ORPHA:98672Clin. grp.
Autosomal dominant

Autosomal dominant optic atrophy and cataract

ORPHA:67036Disease
Autosomal dominant