CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C2752149 46,XY Sex Reversal 4 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality disease of anatomical entity 1 1