Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
RASA1-related capillary malformation-arteriovenous malformation
Autosomal dominant
RERE-related neurodevelopmental syndrome
Autosomal dominant
Antenatal, Neonatal
RIDDLE syndrome
Autosomal recessive
Adolescent, Infancy
RIN2 syndrome
Autosomal recessive
Infancy, Neonatal
RNU4-2-related autosomal dominant neurodevelopmental disorder
Autosomal dominant
Antenatal, Neonatal
Rabson-Mendenhall syndrome
Autosomal recessive
Antenatal, Childhood, Infancy, Neonatal
Radial deficiency-tibial hypoplasia syndrome
Antenatal
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
Neonatal
Radial ray hypoplasia-choanal atresia syndrome
Autosomal dominant
Infancy, Neonatal
Radio-renal syndrome
Neonatal
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
Autosomal dominant
Neonatal
Radioulnar synostosis-developmental delay-hypotonia syndrome
Unknown
Neonatal
Radioulnar synostosis-microcephaly-scoliosis syndrome
Unknown
Antenatal, Neonatal
Ramon syndrome
Autosomal recessive
Infancy
Ramos-Arroyo syndrome
Autosomal dominant
Infancy, Neonatal
Rauch-Steindl syndrome
Antenatal
Recombinant 8 syndrome
Unknown
Infancy, Neonatal
Regressive spondylometaphyseal dysplasia
Autosomal recessive
Neonatal
Renal arteriovenous malformation
Not applicable
Renal caliceal diverticuli-deafness syndrome
Neonatal
Renal coloboma syndrome
Autosomal dominant
Childhood
Renal tubular dysgenesis
Autosomal recessive, Not applicable
Antenatal
Renal-hepatic-pancreatic dysplasia
Autosomal recessive
Antenatal, Neonatal
Renpenning syndrome
X-linked recessive
Infancy, Neonatal