CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0265535 Trigonocephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality disease of anatomical entity Abnormality of head or neck; Abnormality of the skeletal system 52 7