Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Congenital enteropathy due to enteropeptidase deficiency
Autosomal recessive
Infancy, Neonatal
Congenital enterovirus infection
Not applicable
Antenatal, Neonatal
Congenital epulis
Infancy, Neonatal
Congenital erosive and vesicular dermatosis
Not applicable
Infancy, Neonatal
Congenital erythropoietic porphyria
Autosomal recessive
All ages
Congenital esophageal stenosis
Adolescent, Childhood, Infancy, Neonatal
Congenital factor II deficiency
Autosomal recessive
All ages
Congenital factor V deficiency
Autosomal recessive
All ages
Congenital factor VII deficiency
Autosomal dominant, Autosomal recessive
All ages
Congenital factor X deficiency
Autosomal recessive
All ages
Congenital factor XI deficiency
Autosomal dominant, Autosomal recessive
All ages
Congenital factor XII deficiency
Autosomal recessive
All ages
Congenital factor XIII deficiency
Autosomal recessive, Not applicable
All ages
Congenital fiber-type disproportion myopathy
Autosomal dominant, Autosomal recessive, X-linked recessive
Infancy, Neonatal
Congenital fibrinogen deficiency
Autosomal dominant, Autosomal recessive
All ages
Congenital fibrosis of extraocular muscles
Autosomal dominant, Autosomal recessive, Not applicable
Neonatal
Congenital generalized lipodystrophy type 4
Autosomal recessive
Congenital generalized hypercontractile muscle stiffness syndrome
Autosomal dominant, Not applicable
Antenatal, Neonatal
Congenital generalized hypertrichosis, Ambras type
Unknown
Neonatal
Congenital generalized lipodystrophy
Autosomal recessive
Childhood, Infancy, Neonatal
Congenital generalized lipodystrophy type 1
Autosomal recessive
Congenital generalized lipodystrophy type 2
Autosomal recessive
Congenital generalized lipodystrophy type 3
Autosomal recessive
Congenital glaucoma
Autosomal dominant, Autosomal recessive, Not applicable
Infancy, Neonatal