CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0220663 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome genetic disease 9 92