SMAD6-related disease
A human disease in which the cause of the disease is a variation in the SMAD6 gene, and characterized by craniosynostosis with congenital heart disease and/or radioulnar synostosis.
MONDO:0003847
hereditary disease
is_a
SMAD6-related disease with variable craniosynostosis, aortic valve disease, and/or radioulnar synostosis
exact