Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant
Childhood
Autosomal dominant Kenny-Caffey syndrome
Autosomal dominant
Childhood
Autosomal dominant Robinow syndrome
Autosomal dominant
Infancy, Neonatal
Autosomal dominant adult-onset proximal spinal muscular atrophy
Autosomal dominant
Adult, Elderly
Autosomal dominant aplasia and myelodysplasia
Autosomal dominant
Childhood
Autosomal dominant brachyolmia
Autosomal dominant
Childhood
Autosomal dominant centronuclear myopathy
Autosomal dominant
Adolescent, Adult, Childhood, Infancy, Neonatal
Autosomal dominant cerebellar ataxia
Autosomal dominant
All ages
Autosomal dominant cerebellar ataxia type I
Autosomal dominant
All ages
Autosomal dominant cerebellar ataxia type II
Autosomal dominant
Autosomal dominant cerebellar ataxia type III
Autosomal dominant
Adolescent, Adult, Childhood, Elderly
Autosomal dominant cerebellar ataxia type IV
Autosomal dominant
Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
Autosomal dominant, Not applicable
Adult
Autosomal dominant childhood-onset proximal spinal muscular atrophy
Autosomal dominant
Adolescent, Antenatal, Childhood, Infancy, Neonatal
Autosomal dominant combined immunodeficiency due to ERBIN deficiency
Autosomal dominant
Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency
Autosomal dominant
Autosomal dominant complex spastic paraplegia
Autosomal dominant
Autosomal dominant congenital benign spinal muscular atrophy
Autosomal dominant
Antenatal, Neonatal
Autosomal dominant congenital myasthenic syndromes due to defective synaptic vesicles exocytosis
Autosomal dominant
Autosomal dominant cutis laxa
Autosomal dominant
Infancy, Neonatal
Autosomal dominant deafness-onychodystrophy syndrome
Autosomal dominant
Antenatal, Neonatal
Autosomal dominant diffuse mutilating palmoplantar keratoderma
Autosomal dominant
Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature
Autosomal dominant
Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
Autosomal dominant