CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C4551504 Oculocutaneous albinism type 1A disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease 21 101