Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Congenital myopathy with myasthenic-like onset
Autosomal recessive
Infancy, Neonatal
Congenital myopathy with reduced type 2 muscle fibers
Autosomal recessive
Antenatal, Neonatal
Congenital myopathy, Paradas type
Autosomal recessive
Infancy, Neonatal
Congenital myotonia
Congenital nephrotic syndrome, Finnish type
Autosomal recessive
Antenatal, Infancy, Neonatal
Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency
Autosomal recessive
Infancy, Neonatal
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
Autosomal recessive
Infancy, Neonatal
Congenital non-communicating hydrocephalus
Autosomal recessive
Congenital oculomotor nerve palsy
Not applicable
Neonatal
Congenital or early infantile CACH syndrome
Autosomal recessive
Infancy, Neonatal
Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
Autosomal recessive
Antenatal, Neonatal
Congenital pancreatic cyst
Unknown
Infancy, Neonatal
Congenital panfollicular nevus
Infancy, Neonatal
Congenital partial agenesis of pericardium
Not applicable
Congenital partial pulmonary venous return anomaly
Adolescent, Adult, Childhood, Infancy
Congenital patella dislocation
Infancy, Neonatal
Congenital pericardium anomaly
Not applicable
All ages
Congenital plasminogen activator inhibitor type 1 deficiency
Autosomal recessive
Adolescent, Adult, Childhood, Elderly
Congenital portosystemic shunt
All ages
Congenital prekallikrein deficiency
Autosomal recessive
Infancy, Neonatal
Congenital primary aphakia
Autosomal recessive
Antenatal, Infancy, Neonatal
Congenital primary lymphedema of Gordon
Autosomal dominant
Adolescent, Adult, Childhood, Infancy, Neonatal
Congenital primary megaureter
Unknown
Adolescent, Adult, Childhood, Infancy, Neonatal
Congenital primary megaureter, nonrefluxing and unobstructed form
Unknown
Infancy, Neonatal