Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Ring chromosome 2 syndrome
Antenatal, Infancy, Neonatal
Ring chromosome 20 syndrome
Unknown
Adolescent, Adult, Childhood, Infancy
Ring chromosome 21 syndrome
Antenatal, Neonatal
Ring chromosome 22 syndrome
Infancy, Neonatal
Ring chromosome 3 syndrome
Antenatal, Infancy, Neonatal
Ring chromosome 4 syndrome
Infancy, Neonatal
Ring chromosome 5 syndrome
Not applicable, Unknown
Infancy, Neonatal
Ring chromosome 6 syndrome
Antenatal, Infancy, Neonatal
Ring chromosome 7 syndrome
Antenatal, Neonatal
Ring chromosome 8 syndrome
Antenatal, Neonatal
Ring chromosome 9 syndrome
Antenatal, Neonatal
Ring chromosome Y syndrome
Neonatal
Roberts syndrome
Autosomal recessive
Antenatal, Neonatal
Robin sequence-oligodactyly syndrome
Neonatal
Robinow syndrome
Autosomal dominant, Autosomal recessive
Infancy, Neonatal
Rubinstein-Taybi syndrome
Autosomal dominant, Unknown
Antenatal, Neonatal
Ruvalcaba syndrome
Unknown
Infancy, Neonatal
SATB2-associated syndrome
Autosomal dominant
Infancy, Neonatal
SBDS-related severe neonatal spondylometaphyseal dysplasia
SCARF syndrome
X-linked recessive
Infancy, Neonatal
SERKAL syndrome
Autosomal recessive
Antenatal
SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
Autosomal dominant
Neonatal
SHORT syndrome
Autosomal dominant
Neonatal
SIX2-related frontonasal dysplasia
Autosomal dominant
Neonatal