CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C4721531 HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 2 14