Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
Autosomal dominant
Adult
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Autosomal dominant
Adolescent, Adult, Childhood
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
Autosomal dominant
Adolescent, Adult, Childhood
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
Autosomal dominant
Adult
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
Autosomal dominant, Not applicable
No data available
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
Autosomal dominant
All ages
Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
Autosomal dominant
All ages
Autosomal dominant isolated diffuse palmoplantar keratoderma
Autosomal dominant
Autosomal dominant keratitis
Autosomal dominant
Childhood
Autosomal dominant limb-girdle muscular dystrophy
Autosomal dominant
Autosomal dominant macrothrombocytopenia
Autosomal dominant
Adolescent, Adult, Childhood, Elderly, Infancy
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
Autosomal dominant
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Autosomal dominant
Adolescent
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Autosomal dominant
Infancy
Autosomal dominant mitochondrial myopathy with exercise intolerance
Autosomal dominant
Childhood, Infancy
Autosomal dominant multiple pterygium syndrome
Autosomal dominant
Childhood
Autosomal dominant myoglobinuria
Autosomal dominant
No data available
Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
Autosomal dominant
Antenatal, Neonatal
Autosomal dominant myosin storage myopathy
Autosomal dominant
Autosomal dominant neovascular inflammatory vitreoretinopathy
Autosomal dominant
All ages
Autosomal dominant non-syndromic intellectual disability
Autosomal dominant
Childhood, Infancy
Autosomal dominant omodysplasia
Autosomal dominant
Infancy, Neonatal
Autosomal dominant optic atrophy
Autosomal dominant
Childhood
Autosomal dominant optic atrophy and cataract
Autosomal dominant
Childhood