Редкие (орфанные) заболевания
Полная база 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, препаратами и исследованиями.
Congenital primary megaureter, obstructed form
Unknown
Infancy, Neonatal
Congenital primary megaureter, refluxing and obstructed form
Infancy, Neonatal
Congenital primary megaureter, refluxing form
Unknown
Infancy, Neonatal
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
Autosomal recessive
Neonatal
Congenital pseudoarthrosis of the clavicle
Not applicable
Childhood, Infancy, Neonatal
Congenital ptosis
Autosomal dominant, X-linked recessive
Infancy, Neonatal
Congenital pulmonary airway malformation
Not applicable
Adolescent, Adult, Antenatal, Neonatal
Congenital pulmonary airway malformation type 0
Antenatal, Neonatal
Congenital pulmonary airway malformation type 1
Antenatal, Neonatal
Congenital pulmonary airway malformation type 2
Antenatal, Neonatal
Congenital pulmonary airway malformation type 3
Antenatal, Neonatal
Congenital pulmonary airway malformation type 4
Antenatal, Neonatal
Congenital pulmonary lymphangiectasia
Autosomal recessive
Neonatal
Congenital pulmonary sequestration
Neonatal
Congenital pulmonary valvar stenosis
Multigenic/multifactorial, Not applicable
Childhood, Infancy, Neonatal
Congenital pulmonary veins atresia or stenosis
Not applicable
Childhood
Congenital renal artery stenosis
Neonatal
Congenital respiratory-biliary fistula
Not applicable
Childhood
Congenital reticular ichthyosiform erythroderma
Autosomal dominant
Neonatal
Congenital retinal arteriovenous communication
Infancy, Neonatal
Congenital rubella syndrome
Not applicable
Antenatal, Neonatal
Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome
Autosomal dominant
Congenital secondary polycythemia
Autosomal dominant, Autosomal recessive
Infancy, Neonatal
Congenital short QT syndrome
Autosomal dominant
All ages