CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0268487 Tyrosine Transaminase Deficiency Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism; disease of anatomical entity 3 18