Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
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
Hereditary mucoepithelial dysplasia
Autosomal dominant
Childhood
Hereditary myopathy with early respiratory failure
Autosomal dominant
Adult
Hereditary myopathy with lactic acidosis due to ISCU deficiency
Autosomal recessive
Childhood
Hereditary neurocutaneous malformation
Autosomal dominant
Childhood, Infancy
Hereditary neuroendocrine tumor of small intestine
Autosomal dominant
Hereditary neuropathy with liability to pressure palsies
Autosomal dominant
Adolescent, Adult, Childhood, Elderly, Infancy
Hereditary neutrophilia
Autosomal dominant
All ages
Hereditary orotic aciduria
Autosomal recessive
Infancy, Neonatal
Hereditary painful callosities
Autosomal dominant
No data available
Hereditary papillary renal cell carcinoma
Autosomal dominant
Adult
Hereditary persistence of alpha-fetoprotein
Autosomal dominant
Adolescent
Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
Autosomal dominant
Childhood
Hereditary persistence of fetal hemoglobin-intellectual disability syndrome
Autosomal dominant
Infancy, Neonatal
Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
Autosomal recessive
All ages