CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0432322 Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality disease of anatomical entity 2 25