CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0266617 Congenital anomaly of face group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality Abnormality of head or neck 6 6