CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0349588 Short stature phenotype Finding Growth abnormality 25 36
C0028326 Noonan 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; syndrome 8 115
C4049796 Abnormality of cardiovascular system morphology disease Congenital Abnormality Abnormality of the cardiovascular system 5 10
C0041409 Turner Syndrome, Male disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome syndrome 3 40