CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0024796 Marfan Syndrome disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity; genetic disease; physical disorder 72 379