MEDLIB
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:100043Заболевание
Autosomal dominant

Autosomal dominant intermediate Charcot-Marie-Tooth disease type B

ORPHA:100044Заболевание
Autosomal dominant

Autosomal dominant intermediate Charcot-Marie-Tooth disease type C

ORPHA:100045Заболевание
Autosomal dominant

Autosomal dominant intermediate Charcot-Marie-Tooth disease type D

ORPHA:100046Заболевание
Autosomal dominant

Autosomal dominant intermediate Charcot-Marie-Tooth disease type E

ORPHA:93114Заболевание
Autosomal dominant, Not applicable

Autosomal dominant intermediate Charcot-Marie-Tooth disease type F

ORPHA:352670Заболевание
Autosomal dominant

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

ORPHA:324585Заболевание
Autosomal dominant

Autosomal dominant isolated diffuse palmoplantar keratoderma

ORPHA:98349Кат.
Autosomal dominant

Autosomal dominant keratitis

ORPHA:2334Заболевание
Autosomal dominant

Autosomal dominant limb-girdle muscular dystrophy

ORPHA:102014Кат.
Autosomal dominant

Autosomal dominant macrothrombocytopenia

ORPHA:140957Заболевание
Autosomal dominant

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

ORPHA:319543Кат.
Autosomal dominant

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

ORPHA:319581Заболевание
Autosomal dominant

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

ORPHA:319589Заболевание
Autosomal dominant

Autosomal dominant mitochondrial myopathy with exercise intolerance

ORPHA:457050Заболевание
Autosomal dominant

Autosomal dominant multiple pterygium syndrome

ORPHA:65743Порок
Autosomal dominant

Autosomal dominant myoglobinuria

ORPHA:99846Заболевание
Autosomal dominant

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

ORPHA:440354Порок
Autosomal dominant

Autosomal dominant myosin storage myopathy

ORPHA:636965Клин. подт.
Autosomal dominant

Autosomal dominant neovascular inflammatory vitreoretinopathy

ORPHA:329211Заболевание
Autosomal dominant

Autosomal dominant non-syndromic intellectual disability

ORPHA:178469Этиол. подт.
Autosomal dominant

Autosomal dominant omodysplasia

ORPHA:93328Клин. подт.
Autosomal dominant

Autosomal dominant optic atrophy

ORPHA:98672Клин. гр.
Autosomal dominant

Autosomal dominant optic atrophy and cataract

ORPHA:67036Заболевание
Autosomal dominant