CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1563720 Kallmann Syndrome 2 (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 29