Source: CLINVAR

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
C4551906 Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; syndrome 27 67
C4551493 Situs inversus totalis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality Abnormality of the cardiovascular system 9 8
C4022986 Absent inner and outer dynein arms phenotype Finding Abnormality of the respiratory system 3 2
C4022990 Dynein arm defect of respiratory motile cilia phenotype Finding Abnormality of the respiratory system 3 2
C3542550 CILIARY DYSKINESIA, PRIMARY, 17 disease Disease or Syndrome genetic disease; syndrome 2 2