Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Hereditary cryohydrocytosis with normal stomatin
Autosomal dominant
Neonatal
Hereditary cryohydrocytosis with reduced stomatin
Autosomal dominant
Infancy, Neonatal
Hereditary diffuse gastric cancer
Autosomal dominant
Adult
Hereditary elliptocytosis
Autosomal dominant, Autosomal recessive
All ages
Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome
Autosomal dominant
Infancy
Hereditary folate malabsorption
Autosomal recessive
Infancy, Neonatal
Hereditary fructose intolerance
Autosomal recessive
All ages
Hereditary geniospasm
Autosomal dominant
Childhood
Hereditary hemorrhagic telangiectasia
Autosomal dominant
All ages
Hereditary hypercarotenemia and vitamin A deficiency
Autosomal dominant
Childhood, Infancy
Hereditary hyperekplexia
Autosomal dominant, Autosomal recessive
Infancy, Neonatal
Hereditary hyperferritinemia-cataract syndrome
Autosomal dominant
All ages
Hereditary hypophosphatemic rickets with hypercalciuria
Autosomal dominant, Autosomal recessive
Childhood, Infancy
Hereditary hypotrichosis with recurrent skin vesicles
Autosomal recessive
Infancy, Neonatal
Hereditary inclusion body myopathy type 4
Autosomal dominant
Adult
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
Autosomal dominant
Adolescent, Infancy, Neonatal
Hereditary isolated aplastic anemia
Autosomal dominant, Autosomal recessive
Childhood
Hereditary late-onset Parkinson disease
Autosomal dominant
Adult, Elderly
Hereditary leiomyomatosis and renal cell cancer
Autosomal dominant
Adolescent, Adult, Elderly
Hereditary mixed polyposis syndrome
Autosomal dominant
Childhood
Hereditary motor and sensory neuropathy type 5
Autosomal dominant
Adult
Hereditary motor and sensory neuropathy type 6
Autosomal dominant, Autosomal recessive
All ages
Hereditary motor and sensory neuropathy with acrodystrophy
Autosomal recessive
Hereditary motor and sensory neuropathy, Okinawa type
Autosomal dominant
Adult