has material basis in germline mutation in SMAD6 hereditary disease human disease SMAD6-related disease https://github.com/monarch-initiative/mondo/issues/9129 https://github.com/monarch-initiative/mondo/issues/9815 MONDO:0700324 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. SMAD6-related disease with variable craniosynostosis, aortic valve disease, and/or radioulnar synostosis In addition to causing 'aortic valve disease 2' (MONDO:0013902), variations in SMAD6 are also associated with the susceptibility to 'nonsyndromic radioulnar synostosis' (MONDO:0100183) and 'craniosynostosis 7' (MONDO:0044315). [PMID:34953066, PMID:32499606, PMID:27606499]