CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0162671 MELAS Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 21 46
C0162666 Mitochondrial Encephalomyopathies disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 9 10