Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Blepharophimosis-intellectual disability syndrome, Ohdo type
Not applicable
Infancy, Neonatal
Blepharophimosis-intellectual disability syndrome, SBBYS type
Autosomal dominant
Antenatal, Infancy, Neonatal
Blepharophimosis-intellectual disability syndrome, Verloes type
Unknown
Antenatal, Infancy, Neonatal
Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome
Antenatal, Neonatal
Blepharophimosis-ptosis-epicanthus inversus syndrome
Autosomal dominant, Not applicable
Antenatal
Blepharophimosis-ptosis-epicanthus inversus syndrome plus
Antenatal
Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
Autosomal recessive
Neonatal
Blindness-scoliosis-arachnodactyly syndrome
Autosomal dominant
Adolescent, Childhood
Blomstrand lethal chondrodysplasia
Autosomal recessive
Antenatal, Neonatal
Blount disease
Autosomal recessive
Childhood, Infancy
Blue rubber bleb nevus
Autosomal dominant, Not applicable
Childhood
Bohring-Opitz syndrome
Autosomal dominant
Antenatal, Neonatal
Bone dysplasia, lethal Holmgren type
Autosomal recessive
Antenatal, Neonatal
Bonnemann-Meinecke-Reich syndrome
Autosomal recessive
Infancy, Neonatal
Borjeson-Forssman-Lehmann syndrome
X-linked recessive
Neonatal
Bosley-Salih-Alorainy syndrome
Autosomal recessive
Infancy, Neonatal
Bowen-Conradi syndrome
Autosomal recessive
Antenatal, Neonatal
Brachydactyly type A1
Autosomal dominant
Infancy, Neonatal
Brachydactyly type A2
Autosomal dominant
Infancy, Neonatal
Brachydactyly type A4
Autosomal dominant
Infancy, Neonatal
Brachydactyly type A6
Autosomal dominant
Infancy, Neonatal
Brachydactyly type A7
Infancy, Neonatal
Brachydactyly type B
Autosomal dominant
Antenatal
Brachydactyly type C
Autosomal dominant, Autosomal recessive
Infancy, Neonatal