CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0007194 Hypertrophic Cardiomyopathy disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 29 468
C0342788 Renal carnitine transport defect disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of metabolism 2 90
C0678199 Anemia of inadequate production disease Hemic and Lymphatic Diseases Disease or Syndrome Abnormality of blood and blood-forming tissues 1 1