Rare (orphan) diseases
The full catalogue of 7,547 diseases with genetics, phenotypes, epidemiology, orphan drugs, and clinical trials.
Brachydactyly type A7
Infancy, Neonatal
Brachydactyly type B
Autosomal dominant
Antenatal
Brachydactyly type B1
Autosomal dominant
Antenatal
Brachydactyly type B2
Autosomal dominant
Neonatal
Brachydactyly type C
Autosomal dominant, Autosomal recessive
Infancy, Neonatal
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
Autosomal dominant, Autosomal recessive
Childhood
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
Bradyopsia
Autosomal recessive
Childhood
Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome
Autosomal dominant, Not applicable
Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation
Autosomal dominant