Human Phenotype Ontology 
Grandparent Node:
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Abnormal respiratory system physiology (HP:0002795)help
Parent Node:
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Abnormal respiratory motile cilium physiology (HP:0012261)help
..Starting node
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Abnormal ciliary motility (HP:0012262)help
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:
........expandImmotile cilia (HP:0012263) help
........expandCiliary dyskinesia (HP:0012265) help

 Sister Nodes: 
..expandRespiratory insufficiency due to defective ciliary clearance (HP:0200073) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012262HP:0012262Abnormal ciliary motility0CCDC103 CL E G H38838932700OMIM:614679Ciliary dyskinesia, primary, 1736
HP:0012262HP:0012262Abnormal ciliary motility0CCDC39 CL E G H33982925244OMIM:613807Ciliary dyskinesia, primary, 14.126
HP:0012262HP:0012262Abnormal ciliary motility0CCDC40 CL E G H5503626090OMIM:613808CILIARY DYSKINESIA, PRIMARY, 15; CILD15182
HP:0012262HP:0012262Abnormal ciliary motility0CCDC65 CL E G H8547829937OMIM:615504Ciliary dyskinesia, primary, 2723
HP:0012262HP:0012262Abnormal ciliary motility0CCNO CL E G H1030918576OMIM:615872Ciliary dyskinesia, primary, 2923
HP:0012262HP:0012262Abnormal ciliary motility0CFAP298 CL E G H566831301OMIM:615500Ciliary dyskinesia, primary, 26
HP:0012262HP:0012262Abnormal ciliary motility0DNAAF1 CL E G H12387230539OMIM:613193Ciliary dyskinesia, primary, 13116
HP:0012262HP:0012262Abnormal ciliary motility0DNAAF11 CL E G H2363916725OMIM:614935Ciliary dyskinesia, primary, 19
HP:0012262HP:0012262Abnormal ciliary motility0DNAAF2 CL E G H5517220188OMIM:612518CILIARY DYSKINESIA, PRIMARY, 10; CILD1078
HP:0012262HP:0012262Abnormal ciliary motility0DNAAF3 CL E G H35290930492OMIM:606763Ciliary dyskinesia, primary, 263
HP:0012262HP:0012262Abnormal ciliary motility0DNAAF4 CL E G H16158221493OMIM:615482Ciliary dyskinesia, primary, 2527
HP:0012262HP:0012262Abnormal ciliary motility0DNAAF5 CL E G H5491926013OMIM:614874Ciliary dyskinesia, primary, 18.62
HP:0012262HP:0012262Abnormal ciliary motility0DNAH11 CL E G H87012942OMIM:611884CILIARY DYSKINESIA, PRIMARY, 7; CILD7542
HP:0012262HP:0012262Abnormal ciliary motility0DNAH5 CL E G H17672950OMIM:608644CILIARY DYSKINESIA, PRIMARY, 3; CILD3527
HP:0012262HP:0012262Abnormal ciliary motility0DNAI1 CL E G H270192954OMIM:244400Ciliary dyskinesia, primary, 173
HP:0012262HP:0012262Abnormal ciliary motility0DNAI2 CL E G H6444618744OMIM:612444CILIARY DYSKINESIA, PRIMARY, 9; CILD9104
HP:0012262HP:0012262Abnormal ciliary motility0DNAL1 CL E G H8354423247OMIM:614017CILIARY DYSKINESIA, PRIMARY, 16; CILD16167
HP:0012262HP:0012262Abnormal ciliary motility0DRC1 CL E G H9274924245OMIM:615294CILIARY DYSKINESIA, PRIMARY, 21; CILD2144
HP:0012262HP:0012262Abnormal ciliary motility0GAS8 CL E G H26224166OMIM:616726Ciliary dyskinesia, primary, 339
HP:0012262HP:0012262Abnormal ciliary motility0HYDIN CL E G H5476819368OMIM:608647Ciliary dyskinesia, primary, 521
HP:0012262HP:0012262Abnormal ciliary motility0NME8 CL E G H5131416473OMIM:610852Ciliary dyskinesia, primary, 6.50
HP:0012262HP:0012262Abnormal ciliary motility0ODAD1 CL E G H9323326560OMIM:615067Ciliary dyskinesia, primary, 20
HP:0012262HP:0012262Abnormal ciliary motility0ODAD2 CL E G H5513025583OMIM:615451CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0012262HP:0012262Abnormal ciliary motility0ODAD3 CL E G H11594828303OMIM:616037Ciliary dyskinesia, primary, 30
HP:0012262HP:0012262Abnormal ciliary motility0RSPH1 CL E G H8976512371OMIM:615481Ciliary dyskinesia, primary, 2431
HP:0012262HP:0012262Abnormal ciliary motility0RSPH3 CL E G H8386121054OMIM:616481Ciliary dyskinesia, primary, 325
HP:0012262HP:0012262Abnormal ciliary motility0RSPH4A CL E G H34589521558OMIM:612649Ciliary dyskinesia, primary, 11.58
HP:0012262HP:0012262Abnormal ciliary motility0RSPH9 CL E G H22142121057OMIM:612650CILIARY DYSKINESIA, PRIMARY, 12; CILD1220
HP:0012262HP:0012262Abnormal ciliary motility0SPAG1 CL E G H667411212OMIM:615505Ciliary dyskinesia, primary, 2845
HP:0012262HP:0012262Abnormal ciliary motility0STK36 CL E G H2714817209OMIM:619436CILIARY DYSKINESIA, PRIMARY, 46; CILD463
HP:0012262HP:0012262Abnormal ciliary motility0TTC12 CL E G H5497023700OMIM:618801CILIARY DYSKINESIA, PRIMARY, 45; CILD45
HP:0012262HP:0012262Abnormal ciliary motility0ZMYND10 CL E G H5136419412OMIM:615444Ciliary dyskinesia, primary, 2220
HP:0012262HP:0012265Ciliary dyskinesia1CCDC103 CL E G H38838932700OMIM:614679Ciliary dyskinesia, primary, 17.36
HP:0012262HP:0012265Ciliary dyskinesia1CCDC39 CL E G H33982925244OMIM:613807Ciliary dyskinesia, primary, 14126
HP:0012262HP:0012265Ciliary dyskinesia1CCDC40 CL E G H5503626090OMIM:613808CILIARY DYSKINESIA, PRIMARY, 15; CILD15182
HP:0012262HP:0012265Ciliary dyskinesia1CCDC65 CL E G H8547829937OMIM:615504Ciliary dyskinesia, primary, 27.23
HP:0012262HP:0012265Ciliary dyskinesia1CCNO CL E G H1030918576OMIM:615872Ciliary dyskinesia, primary, 2923
HP:0012262HP:0012263Immotile cilia1CFAP298 CL E G H566831301OMIM:615500Ciliary dyskinesia, primary, 26
HP:0012262HP:0012265Ciliary dyskinesia1CFAP298 CL E G H566831301OMIM:615500Ciliary dyskinesia, primary, 26
HP:0012262HP:0012265Ciliary dyskinesia1DNAAF1 CL E G H12387230539OMIM:613193Ciliary dyskinesia, primary, 13.116
HP:0012262HP:0012263Immotile cilia1DNAAF1 CL E G H12387230539OMIM:613193Ciliary dyskinesia, primary, 13116
HP:0012262HP:0012263Immotile cilia1DNAAF11 CL E G H2363916725OMIM:614935Ciliary dyskinesia, primary, 19.
HP:0012262HP:0012265Ciliary dyskinesia1DNAAF11 CL E G H2363916725OMIM:614935Ciliary dyskinesia, primary, 19.
HP:0012262HP:0012265Ciliary dyskinesia1DNAAF2 CL E G H5517220188OMIM:612518CILIARY DYSKINESIA, PRIMARY, 10; CILD1078
HP:0012262HP:0012265Ciliary dyskinesia1DNAAF3 CL E G H35290930492OMIM:606763Ciliary dyskinesia, primary, 2.63
HP:0012262HP:0012263Immotile cilia1DNAAF3 CL E G H35290930492OMIM:606763Ciliary dyskinesia, primary, 2.63
HP:0012262HP:0012263Immotile cilia1DNAAF4 CL E G H16158221493OMIM:615482Ciliary dyskinesia, primary, 25.27
HP:0012262HP:0012265Ciliary dyskinesia1DNAAF4 CL E G H16158221493OMIM:615482Ciliary dyskinesia, primary, 25.27
HP:0012262HP:0012265Ciliary dyskinesia1DNAAF5 CL E G H5491926013OMIM:614874Ciliary dyskinesia, primary, 18.62
HP:0012262HP:0012265Ciliary dyskinesia1DNAH11 CL E G H87012942OMIM:611884CILIARY DYSKINESIA, PRIMARY, 7; CILD7542
HP:0012262HP:0012265Ciliary dyskinesia1DNAH5 CL E G H17672950OMIM:608644CILIARY DYSKINESIA, PRIMARY, 3; CILD3527
HP:0012262HP:0012263Immotile cilia1DNAI1 CL E G H270192954OMIM:244400Ciliary dyskinesia, primary, 1.73
HP:0012262HP:0012265Ciliary dyskinesia1DNAI1 CL E G H270192954OMIM:244400Ciliary dyskinesia, primary, 1.73
HP:0012262HP:0012265Ciliary dyskinesia1DNAI2 CL E G H6444618744OMIM:612444CILIARY DYSKINESIA, PRIMARY, 9; CILD9104
HP:0012262HP:0012265Ciliary dyskinesia1DNAL1 CL E G H8354423247OMIM:614017CILIARY DYSKINESIA, PRIMARY, 16; CILD16167
HP:0012262HP:0012265Ciliary dyskinesia1DRC1 CL E G H9274924245OMIM:615294CILIARY DYSKINESIA, PRIMARY, 21; CILD2144
HP:0012262HP:0012265Ciliary dyskinesia1GAS8 CL E G H26224166OMIM:616726Ciliary dyskinesia, primary, 339
HP:0012262HP:0012265Ciliary dyskinesia1HYDIN CL E G H5476819368OMIM:608647Ciliary dyskinesia, primary, 5.21
HP:0012262HP:0012265Ciliary dyskinesia1NME8 CL E G H5131416473OMIM:610852Ciliary dyskinesia, primary, 6.50
HP:0012262HP:0012265Ciliary dyskinesia1ODAD1 CL E G H9323326560OMIM:615067Ciliary dyskinesia, primary, 20.
HP:0012262HP:0012265Ciliary dyskinesia1ODAD2 CL E G H5513025583OMIM:615451CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0012262HP:0012265Ciliary dyskinesia1ODAD3 CL E G H11594828303OMIM:616037Ciliary dyskinesia, primary, 30.
HP:0012262HP:0012265Ciliary dyskinesia1RSPH1 CL E G H8976512371OMIM:615481Ciliary dyskinesia, primary, 24.31
HP:0012262HP:0012265Ciliary dyskinesia1RSPH3 CL E G H8386121054OMIM:616481Ciliary dyskinesia, primary, 32.5
HP:0012262HP:0012263Immotile cilia1RSPH3 CL E G H8386121054OMIM:616481Ciliary dyskinesia, primary, 32.5
HP:0012262HP:0012265Ciliary dyskinesia1RSPH4A CL E G H34589521558OMIM:612649Ciliary dyskinesia, primary, 11.58
HP:0012262HP:0012263Immotile cilia1RSPH4A CL E G H34589521558OMIM:612649Ciliary dyskinesia, primary, 1158
HP:0012262HP:0012265Ciliary dyskinesia1RSPH9 CL E G H22142121057OMIM:612650CILIARY DYSKINESIA, PRIMARY, 12; CILD1220
HP:0012262HP:0012265Ciliary dyskinesia1SPAG1 CL E G H667411212OMIM:615505Ciliary dyskinesia, primary, 28.45
HP:0012262HP:0012265Ciliary dyskinesia1STK36 CL E G H2714817209OMIM:619436CILIARY DYSKINESIA, PRIMARY, 46; CILD463
HP:0012262HP:0012263Immotile cilia1TTC12 CL E G H5497023700OMIM:618801CILIARY DYSKINESIA, PRIMARY, 45; CILD45
HP:0012262HP:0012263Immotile cilia1ZMYND10 CL E G H5136419412OMIM:615444Ciliary dyskinesia, primary, 2220
HP:0012262HP:0012265Ciliary dyskinesia1ZMYND10 CL E G H5136419412OMIM:615444Ciliary 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.