CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1879312 Agyria disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality genetic disease; disease of anatomical entity; syndrome; disease of mental health; physical disorder Abnormality of the nervous system 20 0