Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0266015 Congenital digestive system anomalies group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality Abnormality of the digestive system 2 5
C4020949 Abnormal emotion/affect behavior phenotype Behavior and Behavior Mechanisms Pathologic Function Abnormality of the nervous system 3 13
C4316870 Abnormality of the eye phenotype Anatomical Abnormality Abnormality of the eye 21 29
C0018818 Ventricular Septal Defects group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 31 34
C2243051 Large head (disorder) phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 64 116
C1843367 Poor school performance phenotype Finding Abnormality of the nervous system 211 411