Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Rhizomelic chondrodysplasia punctata type 1
Autosomal recessive
Rhizomelic chondrodysplasia punctata type 2
Autosomal recessive
Rhizomelic chondrodysplasia punctata type 3
Autosomal recessive
Rhizomelic chondrodysplasia punctata type 5
Autosomal recessive
Infancy, Neonatal
Rhizomelic dysplasia, Patterson-Lowry type
Childhood, Infancy
Rhizomelic syndrome, Urbach type
Neonatal
Rhombencephalosynapsis
Not applicable
Antenatal, Infancy, Neonatal
Riboflavin transporter deficiency
Autosomal recessive
Adolescent, Adult, Childhood, Infancy
Ribose-5-P isomerase deficiency
Autosomal recessive
Childhood
Richards-Rundle syndrome
Autosomal recessive
Infancy
Richieri Costa-Pereira syndrome
Autosomal recessive
Infancy, Neonatal
Richieri Costa-da Silva syndrome
Childhood
Ricin poisoning
Not applicable
All ages
Rickettsialpox
Not applicable
All ages
Rieger anomaly
Autosomal dominant
Neonatal
Rift valley fever
All ages
Right isomerism
Autosomal recessive
Neonatal
Rigid spine syndrome
Autosomal recessive
Infancy, Neonatal
Ring chromosome 1 syndrome
Neonatal
Ring chromosome 10 syndrome
Not applicable, Unknown
Antenatal, Neonatal
Ring chromosome 11 syndrome
Antenatal, Infancy, Neonatal
Ring chromosome 12 syndrome
Infancy, Neonatal
Ring chromosome 13 syndrome
Antenatal, Childhood, Infancy, Neonatal
Ring chromosome 14 syndrome
Not applicable, Unknown
Childhood