CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0432123 Sagittal craniosynostosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 1 2