MEDLIB
Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Autosomal dominant intermediate Charcot-Marie-Tooth disease type A

ORPHA:100043Ауру
Autosomal dominant

Autosomal dominant intermediate Charcot-Marie-Tooth disease type B

ORPHA:100044Ауру
Autosomal dominant

Autosomal dominant intermediate Charcot-Marie-Tooth disease type C

ORPHA:100045Ауру
Autosomal dominant

Autosomal dominant intermediate Charcot-Marie-Tooth disease type D

ORPHA:100046Ауру
Autosomal dominant

Autosomal dominant intermediate Charcot-Marie-Tooth disease type E

ORPHA:93114Ауру
Autosomal dominant, Not applicable

Autosomal dominant intermediate Charcot-Marie-Tooth disease type F

ORPHA:352670Ауру
Autosomal dominant

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

ORPHA:324585Ауру
Autosomal dominant

Autosomal dominant isolated diffuse palmoplantar keratoderma

ORPHA:98349Сан.
Autosomal dominant

Autosomal dominant keratitis

ORPHA:2334Ауру
Autosomal dominant

Autosomal dominant limb-girdle muscular dystrophy

ORPHA:102014Сан.
Autosomal dominant

Autosomal dominant macrothrombocytopenia

ORPHA:140957Ауру
Autosomal dominant

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

ORPHA:319543Сан.
Autosomal dominant

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

ORPHA:319581Ауру
Autosomal dominant

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

ORPHA:319589Ауру
Autosomal dominant

Autosomal dominant mitochondrial myopathy with exercise intolerance

ORPHA:457050Ауру
Autosomal dominant

Autosomal dominant multiple pterygium syndrome

ORPHA:65743Мальф.
Autosomal dominant

Autosomal dominant myoglobinuria

ORPHA:99846Ауру
Autosomal dominant

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

ORPHA:440354Мальф.
Autosomal dominant

Autosomal dominant myosin storage myopathy

ORPHA:636965Клин. под.
Autosomal dominant

Autosomal dominant neovascular inflammatory vitreoretinopathy

ORPHA:329211Ауру
Autosomal dominant

Autosomal dominant non-syndromic intellectual disability

ORPHA:178469Этио. под.
Autosomal dominant

Autosomal dominant omodysplasia

ORPHA:93328Клин. под.
Autosomal dominant

Autosomal dominant optic atrophy

ORPHA:98672Клин. топ
Autosomal dominant

Autosomal dominant optic atrophy and cataract

ORPHA:67036Ауру
Autosomal dominant