CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1853509 Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 1 1