Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Brachydactyly type E
Autosomal dominant
Antenatal
Brachydactyly-arterial hypertension syndrome
Autosomal dominant
Neonatal
Brachydactyly-elbow wrist dysplasia syndrome
Autosomal dominant
Antenatal, Infancy, Neonatal
Brachydactyly-long thumb syndrome
Autosomal dominant
Infancy, Neonatal
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
Neonatal
Brachydactyly-nystagmus-cerebellar ataxia syndrome
Unknown
Infancy
Brachydactyly-preaxial hallux varus syndrome
Autosomal dominant
Neonatal
Brachydactyly-short stature-retinitis pigmentosa syndrome
Autosomal recessive
Childhood, Infancy
Brachydactyly-syndactyly, Zhao type
Autosomal dominant
Infancy, Neonatal
Brachymorphism-onychodysplasia-dysphalangism syndrome
Autosomal dominant
Neonatal
Brachyolmia, Maroteaux type
Autosomal recessive
Childhood
Brachyolmia-amelogenesis imperfecta syndrome
Autosomal recessive
Childhood
Brachytelephalangic chondrodysplasia punctata
X-linked recessive
Antenatal, Neonatal
Brachytelephalangy-dysmorphism-Kallmann syndrome
Autosomal dominant
Neonatal
Braddock syndrome
Autosomal recessive
Neonatal
Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome
Autosomal dominant, Not applicable
Brain malformation-congenital heart disease-postaxial polydactyly syndrome
Unknown
Infancy, Neonatal
Branchio-oculo-facial syndrome
Autosomal dominant
Antenatal, Neonatal
Branchiogenic deafness syndrome
Autosomal dominant
Antenatal, Neonatal
Branchiootic syndrome
Autosomal dominant
Neonatal
Branchioskeletogenital syndrome
Autosomal recessive, X-linked dominant
Neonatal
Bronchopulmonary dysplasia
Not applicable
Infancy, Neonatal
Bruck syndrome
Autosomal recessive
Antenatal, Childhood, Infancy, Neonatal
Burn-McKeown syndrome
Autosomal recessive
Neonatal