Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Congenital central hypoventilation syndrome
Autosomal dominant, Not applicable
Infancy, Neonatal
Congenital cerebellar ataxia due to RNU12 mutation
Autosomal recessive
Infancy
Congenital cervical spinal stenosis
Adolescent, Adult
Congenital chloride diarrhea
Autosomal recessive
Infancy, Neonatal
Congenital chronic diarrhea with protein-losing enteropathy
Autosomal recessive
Infancy, Neonatal
Congenital chylothorax
Not applicable, Unknown
Infancy, Neonatal
Congenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndrome
Autosomal recessive
Congenital dyserythropoietic anemia type I
Autosomal recessive
Adolescent, Adult, Childhood, Infancy, Neonatal
Congenital dyserythropoietic anemia type II
Autosomal recessive
Adolescent, Adult, Childhood, Elderly, Infancy, Neonatal
Congenital dyserythropoietic anemia type III
Autosomal dominant, Autosomal recessive
All ages
Congenital dyserythropoietic anemia type IV
Autosomal dominant
Infancy, Neonatal
Congenital enterocyte heparan sulfate deficiency
Infancy, Neonatal
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 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