CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1836861 FANCONI ANEMIA, COMPLEMENTATION GROUP I disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 7