CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C2677180 Congenital microcephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system 51 29