Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими 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 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 sialidosis type 2
Autosomal recessive
Infancy, Neonatal
Congenital symblepharon
Antenatal, Neonatal
Congenital thrombotic thrombocytopenic purpura
Autosomal recessive
Adult, Childhood, Infancy, Neonatal
Congenital vertical talus, bilateral
Autosomal dominant
Congenital vertical talus, unilateral
Autosomal dominant
Congenital-onset Steinert myotonic dystrophy
Autosomal dominant
Antenatal, Neonatal
Congenitally uncorrected transposition of the great arteries with cardiac malformation
Multigenic/multifactorial, Not applicable
Infancy, Neonatal
Congenitally uncorrected transposition of the great arteries with coarctation
Multigenic/multifactorial, Not applicable
Infancy, Neonatal
Coralliform cataract
Autosomal dominant
Infancy, Neonatal
Cowden syndrome
Autosomal dominant
All ages
Cree leukoencephalopathy
Autosomal recessive
Crigler-Najjar syndrome type 1
Autosomal recessive
Neonatal
Crigler-Najjar syndrome type 2
Autosomal recessive
Infancy, Neonatal
Cutaneous polyarteritis nodosa
Not applicable
Dent disease type 1
X-linked recessive
Childhood
Dent disease type 2
X-linked recessive
Childhood, Infancy