CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0008780 Ciliary Motility Disorders group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; syndrome Abnormality of the respiratory system 36 402
C2750790 CILIARY DYSKINESIA, PRIMARY, 13 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; syndrome 1 5