Human Phenotype
Ontology
Grandparent Node: Abnormal respiratory system physiology (HP:0002795) Parent Node: Abnormal respiratory motile cilium physiology (HP:0012261) ..Starting node .. Abnormal ciliary motility (HP:0012262)
Term ID:
12262
Name:
Abnormal ciliary motility
Synonym:
Definition:
Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions.
Comments:
Reference:
HP:0012262
Genes and Diseases: Child Nodes: ........Immotile cilia (HP:0012263) ........Ciliary dyskinesia (HP:0012265) Sister Nodes: ..Respiratory insufficiency due to defective ciliary clearance (HP:0200073) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HPO disease - gene - phenotype typical associations: HPO disease - gene - phenotype less frequent non-typical associations: HP:0012262 HP:0012262 Abnormal ciliary motility 0 CCDC103 CL E G H 388389 32700 OMIM:614679 Ciliary dyskinesia, primary, 17 36 HP:0012262 HP:0012262 Abnormal ciliary motility 0 CCDC39 CL E G H 339829 25244 OMIM:613807 Ciliary dyskinesia, primary, 14 . 126 HP:0012262 HP:0012262 Abnormal ciliary motility 0 CCDC40 CL E G H 55036 26090 OMIM:613808 CILIARY DYSKINESIA, PRIMARY, 15; CILD15 182 HP:0012262 HP:0012262 Abnormal ciliary motility 0 CCDC65 CL E G H 85478 29937 OMIM:615504 Ciliary dyskinesia, primary, 27 23 HP:0012262 HP:0012262 Abnormal ciliary motility 0 CCNO CL E G H 10309 18576 OMIM:615872 Ciliary dyskinesia, primary, 29 23 HP:0012262 HP:0012262 Abnormal ciliary motility 0 CFAP298 CL E G H 56683 1301 OMIM:615500 Ciliary dyskinesia, primary, 26 HP:0012262 HP:0012262 Abnormal ciliary motility 0 DNAAF1 CL E G H 123872 30539 OMIM:613193 Ciliary dyskinesia, primary, 13 116 HP:0012262 HP:0012262 Abnormal ciliary motility 0 DNAAF11 CL E G H 23639 16725 OMIM:614935 Ciliary dyskinesia, primary, 19 HP:0012262 HP:0012262 Abnormal ciliary motility 0 DNAAF2 CL E G H 55172 20188 OMIM:612518 CILIARY DYSKINESIA, PRIMARY, 10; CILD10 78 HP:0012262 HP:0012262 Abnormal ciliary motility 0 DNAAF3 CL E G H 352909 30492 OMIM:606763 Ciliary dyskinesia, primary, 2 63 HP:0012262 HP:0012262 Abnormal ciliary motility 0 DNAAF4 CL E G H 161582 21493 OMIM:615482 Ciliary dyskinesia, primary, 25 27 HP:0012262 HP:0012262 Abnormal ciliary motility 0 DNAAF5 CL E G H 54919 26013 OMIM:614874 Ciliary dyskinesia, primary, 18 . 62 HP:0012262 HP:0012262 Abnormal ciliary motility 0 DNAH11 CL E G H 8701 2942 OMIM:611884 CILIARY DYSKINESIA, PRIMARY, 7; CILD7 542 HP:0012262 HP:0012262 Abnormal ciliary motility 0 DNAH5 CL E G H 1767 2950 OMIM:608644 CILIARY DYSKINESIA, PRIMARY, 3; CILD3 527 HP:0012262 HP:0012262 Abnormal ciliary motility 0 DNAI1 CL E G H 27019 2954 OMIM:244400 Ciliary dyskinesia, primary, 1 73 HP:0012262 HP:0012262 Abnormal ciliary motility 0 DNAI2 CL E G H 64446 18744 OMIM:612444 CILIARY DYSKINESIA, PRIMARY, 9; CILD9 104 HP:0012262 HP:0012262 Abnormal ciliary motility 0 DNAL1 CL E G H 83544 23247 OMIM:614017 CILIARY DYSKINESIA, PRIMARY, 16; CILD16 167 HP:0012262 HP:0012262 Abnormal ciliary motility 0 DRC1 CL E G H 92749 24245 OMIM:615294 CILIARY DYSKINESIA, PRIMARY, 21; CILD21 44 HP:0012262 HP:0012262 Abnormal ciliary motility 0 GAS8 CL E G H 2622 4166 OMIM:616726 Ciliary dyskinesia, primary, 33 9 HP:0012262 HP:0012262 Abnormal ciliary motility 0 HYDIN CL E G H 54768 19368 OMIM:608647 Ciliary dyskinesia, primary, 5 21 HP:0012262 HP:0012262 Abnormal ciliary motility 0 NME8 CL E G H 51314 16473 OMIM:610852 Ciliary dyskinesia, primary, 6 . 50 HP:0012262 HP:0012262 Abnormal ciliary motility 0 ODAD1 CL E G H 93233 26560 OMIM:615067 Ciliary dyskinesia, primary, 20 HP:0012262 HP:0012262 Abnormal ciliary motility 0 ODAD2 CL E G H 55130 25583 OMIM:615451 CILIARY DYSKINESIA, PRIMARY, 23; CILD23 HP:0012262 HP:0012262 Abnormal ciliary motility 0 ODAD3 CL E G H 115948 28303 OMIM:616037 Ciliary dyskinesia, primary, 30 HP:0012262 HP:0012262 Abnormal ciliary motility 0 RSPH1 CL E G H 89765 12371 OMIM:615481 Ciliary dyskinesia, primary, 24 31 HP:0012262 HP:0012262 Abnormal ciliary motility 0 RSPH3 CL E G H 83861 21054 OMIM:616481 Ciliary dyskinesia, primary, 32 5 HP:0012262 HP:0012262 Abnormal ciliary motility 0 RSPH4A CL E G H 345895 21558 OMIM:612649 Ciliary dyskinesia, primary, 11 . 58 HP:0012262 HP:0012262 Abnormal ciliary motility 0 RSPH9 CL E G H 221421 21057 OMIM:612650 CILIARY DYSKINESIA, PRIMARY, 12; CILD12 20 HP:0012262 HP:0012262 Abnormal ciliary motility 0 SPAG1 CL E G H 6674 11212 OMIM:615505 Ciliary dyskinesia, primary, 28 45 HP:0012262 HP:0012262 Abnormal ciliary motility 0 STK36 CL E G H 27148 17209 OMIM:619436 CILIARY DYSKINESIA, PRIMARY, 46; CILD46 3 HP:0012262 HP:0012262 Abnormal ciliary motility 0 TTC12 CL E G H 54970 23700 OMIM:618801 CILIARY DYSKINESIA, PRIMARY, 45; CILD45 HP:0012262 HP:0012262 Abnormal ciliary motility 0 ZMYND10 CL E G H 51364 19412 OMIM:615444 Ciliary dyskinesia, primary, 22 20 HP:0012262 HP:0012265 Ciliary dyskinesia 1 CCDC103 CL E G H 388389 32700 OMIM:614679 Ciliary dyskinesia, primary, 17 . 36 HP:0012262 HP:0012265 Ciliary dyskinesia 1 CCDC39 CL E G H 339829 25244 OMIM:613807 Ciliary dyskinesia, primary, 14 126 HP:0012262 HP:0012265 Ciliary dyskinesia 1 CCDC40 CL E G H 55036 26090 OMIM:613808 CILIARY DYSKINESIA, PRIMARY, 15; CILD15 182 HP:0012262 HP:0012265 Ciliary dyskinesia 1 CCDC65 CL E G H 85478 29937 OMIM:615504 Ciliary dyskinesia, primary, 27 . 23 HP:0012262 HP:0012265 Ciliary dyskinesia 1 CCNO CL E G H 10309 18576 OMIM:615872 Ciliary dyskinesia, primary, 29 23 HP:0012262 HP:0012263 Immotile cilia 1 CFAP298 CL E G H 56683 1301 OMIM:615500 Ciliary dyskinesia, primary, 26 HP:0012262 HP:0012265 Ciliary dyskinesia 1 CFAP298 CL E G H 56683 1301 OMIM:615500 Ciliary dyskinesia, primary, 26 HP:0012262 HP:0012265 Ciliary dyskinesia 1 DNAAF1 CL E G H 123872 30539 OMIM:613193 Ciliary dyskinesia, primary, 13 . 116 HP:0012262 HP:0012263 Immotile cilia 1 DNAAF1 CL E G H 123872 30539 OMIM:613193 Ciliary dyskinesia, primary, 13 116 HP:0012262 HP:0012263 Immotile cilia 1 DNAAF11 CL E G H 23639 16725 OMIM:614935 Ciliary dyskinesia, primary, 19 . HP:0012262 HP:0012265 Ciliary dyskinesia 1 DNAAF11 CL E G H 23639 16725 OMIM:614935 Ciliary dyskinesia, primary, 19 . HP:0012262 HP:0012265 Ciliary dyskinesia 1 DNAAF2 CL E G H 55172 20188 OMIM:612518 CILIARY DYSKINESIA, PRIMARY, 10; CILD10 78 HP:0012262 HP:0012265 Ciliary dyskinesia 1 DNAAF3 CL E G H 352909 30492 OMIM:606763 Ciliary dyskinesia, primary, 2 . 63 HP:0012262 HP:0012263 Immotile cilia 1 DNAAF3 CL E G H 352909 30492 OMIM:606763 Ciliary dyskinesia, primary, 2 . 63 HP:0012262 HP:0012263 Immotile cilia 1 DNAAF4 CL E G H 161582 21493 OMIM:615482 Ciliary dyskinesia, primary, 25 . 27 HP:0012262 HP:0012265 Ciliary dyskinesia 1 DNAAF4 CL E G H 161582 21493 OMIM:615482 Ciliary dyskinesia, primary, 25 . 27 HP:0012262 HP:0012265 Ciliary dyskinesia 1 DNAAF5 CL E G H 54919 26013 OMIM:614874 Ciliary dyskinesia, primary, 18 . 62 HP:0012262 HP:0012265 Ciliary dyskinesia 1 DNAH11 CL E G H 8701 2942 OMIM:611884 CILIARY DYSKINESIA, PRIMARY, 7; CILD7 542 HP:0012262 HP:0012265 Ciliary dyskinesia 1 DNAH5 CL E G H 1767 2950 OMIM:608644 CILIARY DYSKINESIA, PRIMARY, 3; CILD3 527 HP:0012262 HP:0012263 Immotile cilia 1 DNAI1 CL E G H 27019 2954 OMIM:244400 Ciliary dyskinesia, primary, 1 . 73 HP:0012262 HP:0012265 Ciliary dyskinesia 1 DNAI1 CL E G H 27019 2954 OMIM:244400 Ciliary dyskinesia, primary, 1 . 73 HP:0012262 HP:0012265 Ciliary dyskinesia 1 DNAI2 CL E G H 64446 18744 OMIM:612444 CILIARY DYSKINESIA, PRIMARY, 9; CILD9 104 HP:0012262 HP:0012265 Ciliary dyskinesia 1 DNAL1 CL E G H 83544 23247 OMIM:614017 CILIARY DYSKINESIA, PRIMARY, 16; CILD16 167 HP:0012262 HP:0012265 Ciliary dyskinesia 1 DRC1 CL E G H 92749 24245 OMIM:615294 CILIARY DYSKINESIA, PRIMARY, 21; CILD21 44 HP:0012262 HP:0012265 Ciliary dyskinesia 1 GAS8 CL E G H 2622 4166 OMIM:616726 Ciliary dyskinesia, primary, 33 9 HP:0012262 HP:0012265 Ciliary dyskinesia 1 HYDIN CL E G H 54768 19368 OMIM:608647 Ciliary dyskinesia, primary, 5 . 21 HP:0012262 HP:0012265 Ciliary dyskinesia 1 NME8 CL E G H 51314 16473 OMIM:610852 Ciliary dyskinesia, primary, 6 . 50 HP:0012262 HP:0012265 Ciliary dyskinesia 1 ODAD1 CL E G H 93233 26560 OMIM:615067 Ciliary dyskinesia, primary, 20 . HP:0012262 HP:0012265 Ciliary dyskinesia 1 ODAD2 CL E G H 55130 25583 OMIM:615451 CILIARY DYSKINESIA, PRIMARY, 23; CILD23 HP:0012262 HP:0012265 Ciliary dyskinesia 1 ODAD3 CL E G H 115948 28303 OMIM:616037 Ciliary dyskinesia, primary, 30 . HP:0012262 HP:0012265 Ciliary dyskinesia 1 RSPH1 CL E G H 89765 12371 OMIM:615481 Ciliary dyskinesia, primary, 24 . 31 HP:0012262 HP:0012265 Ciliary dyskinesia 1 RSPH3 CL E G H 83861 21054 OMIM:616481 Ciliary dyskinesia, primary, 32 . 5 HP:0012262 HP:0012263 Immotile cilia 1 RSPH3 CL E G H 83861 21054 OMIM:616481 Ciliary dyskinesia, primary, 32 . 5 HP:0012262 HP:0012265 Ciliary dyskinesia 1 RSPH4A CL E G H 345895 21558 OMIM:612649 Ciliary dyskinesia, primary, 11 . 58 HP:0012262 HP:0012263 Immotile cilia 1 RSPH4A CL E G H 345895 21558 OMIM:612649 Ciliary dyskinesia, primary, 11 58 HP:0012262 HP:0012265 Ciliary dyskinesia 1 RSPH9 CL E G H 221421 21057 OMIM:612650 CILIARY DYSKINESIA, PRIMARY, 12; CILD12 20 HP:0012262 HP:0012265 Ciliary dyskinesia 1 SPAG1 CL E G H 6674 11212 OMIM:615505 Ciliary dyskinesia, primary, 28 . 45 HP:0012262 HP:0012265 Ciliary dyskinesia 1 STK36 CL E G H 27148 17209 OMIM:619436 CILIARY DYSKINESIA, PRIMARY, 46; CILD46 3 HP:0012262 HP:0012263 Immotile cilia 1 TTC12 CL E G H 54970 23700 OMIM:618801 CILIARY DYSKINESIA, PRIMARY, 45; CILD45 HP:0012262 HP:0012263 Immotile cilia 1 ZMYND10 CL E G H 51364 19412 OMIM:615444 Ciliary dyskinesia, primary, 22 20 HP:0012262 HP:0012265 Ciliary dyskinesia 1 ZMYND10 CL E G H 51364 19412 OMIM:615444 Ciliary dyskinesia, primary, 22 . 20
Genes (32) :CCDC103 CCDC39 CCDC40 CCDC65 CCNO CFAP298 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAH11 DNAH5 DNAI1 DNAI2 DNAL1 DRC1 GAS8 HYDIN NME8 ODAD1 ODAD2 ODAD3 RSPH1 RSPH3 RSPH4A RSPH9 SPAG1 STK36 TTC12 ZMYND10 Diseases (32) :OMIM:614679 OMIM:613807 OMIM:613808 OMIM:615504 OMIM:615872 OMIM:615500 OMIM:613193 OMIM:614935 OMIM:612518 OMIM:606763 OMIM:615482 OMIM:614874 OMIM:611884 OMIM:608644 OMIM:244400 OMIM:612444 OMIM:614017 OMIM:615294 OMIM:616726 OMIM:608647 OMIM:610852 OMIM:615067 OMIM:615451 OMIM:616037 OMIM:615481 OMIM:616481 OMIM:612649 OMIM:612650 OMIM:615505 OMIM:619436 OMIM:618801 OMIM:615444
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.