Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012261	HP:0012261	Abnormal respiratory motile cilium physiology	0	CCDC103 CL E G H	388389	32700	OMIM:614679	Ciliary dyskinesia, primary, 17		36
HP:0012261	HP:0012261	Abnormal respiratory motile cilium physiology	0	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0012261	HP:0012261	Abnormal respiratory motile cilium physiology	0	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15		182
HP:0012261	HP:0012261	Abnormal respiratory motile cilium physiology	0	CCDC65 CL E G H	85478	29937	OMIM:615504	Ciliary dyskinesia, primary, 27		23
HP:0012261	HP:0012261	Abnormal respiratory motile cilium physiology	0	CCNO CL E G H	10309	18576	OMIM:615872	Ciliary dyskinesia, primary, 29		23
HP:0012261	HP:0012261	Abnormal respiratory motile cilium physiology	0	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0012261	HP:0012261	Abnormal respiratory motile cilium physiology	0	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13		116
HP:0012261	HP:0012261	Abnormal respiratory motile cilium physiology	0	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19
HP:0012261	HP:0012261	Abnormal respiratory motile cilium physiology	0	DNAAF2 CL E G H	55172	20188	OMIM:612518	CILIARY DYSKINESIA, PRIMARY, 10; CILD10		78
HP:0012261	HP:0012261	Abnormal respiratory motile cilium physiology	0	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2		63
HP:0012261	HP:0012261	Abnormal respiratory motile cilium physiology	0	DNAAF4 CL E G H	161582	21493	OMIM:615482	Ciliary dyskinesia, primary, 25		27
HP:0012261	HP:0012261	Abnormal respiratory motile cilium physiology	0	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18		62
HP:0012261	HP:0012261	Abnormal respiratory motile cilium physiology	0	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7		542
HP:0012261	HP:0012261	Abnormal respiratory motile cilium physiology	0	DNAH5 CL E G H	1767	2950	OMIM:608644	CILIARY DYSKINESIA, PRIMARY, 3; CILD3		527
HP:0012261	HP:0012261	Abnormal respiratory motile cilium physiology	0	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40		18
HP:0012261	HP:0012261	Abnormal respiratory motile cilium physiology	0	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1		73
HP:0012261	HP:0012261	Abnormal respiratory motile cilium physiology	0	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9		104
HP:0012261	HP:0012261	Abnormal respiratory motile cilium physiology	0	DNAJB13 CL E G H	374407	30718	OMIM:617091	CILIARY DYSKINESIA, PRIMARY, 34; CILD34		2
HP:0012261	HP:0012261	Abnormal respiratory motile cilium physiology	0	DNAL1 CL E G H	83544	23247	OMIM:614017	CILIARY DYSKINESIA, PRIMARY, 16; CILD16		167
HP:0012261	HP:0012261	Abnormal respiratory motile cilium physiology	0	DRC1 CL E G H	92749	24245	OMIM:615294	CILIARY DYSKINESIA, PRIMARY, 21; CILD21		44
HP:0012261	HP:0012261	Abnormal respiratory motile cilium physiology	0	GAS8 CL E G H	2622	4166	OMIM:616726	Ciliary dyskinesia, primary, 33		9
HP:0012261	HP:0012261	Abnormal respiratory motile cilium physiology	0	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5		21
HP:0012261	HP:0012261	Abnormal respiratory motile cilium physiology	0	NME8 CL E G H	51314	16473	OMIM:610852	Ciliary dyskinesia, primary, 6		50
HP:0012261	HP:0012261	Abnormal respiratory motile cilium physiology	0	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20
HP:0012261	HP:0012261	Abnormal respiratory motile cilium physiology	0	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0012261	HP:0012261	Abnormal respiratory motile cilium physiology	0	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30
HP:0012261	HP:0012261	Abnormal respiratory motile cilium physiology	0	RSPH1 CL E G H	89765	12371	OMIM:615481	Ciliary dyskinesia, primary, 24		31
HP:0012261	HP:0012261	Abnormal respiratory motile cilium physiology	0	RSPH3 CL E G H	83861	21054	OMIM:616481	Ciliary dyskinesia, primary, 32		5
HP:0012261	HP:0012261	Abnormal respiratory motile cilium physiology	0	RSPH4A CL E G H	345895	21558	OMIM:612649	Ciliary dyskinesia, primary, 11		58
HP:0012261	HP:0012261	Abnormal respiratory motile cilium physiology	0	RSPH9 CL E G H	221421	21057	OMIM:612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12		20
HP:0012261	HP:0012261	Abnormal respiratory motile cilium physiology	0	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28		45
HP:0012261	HP:0012261	Abnormal respiratory motile cilium physiology	0	STK36 CL E G H	27148	17209	OMIM:619436	CILIARY DYSKINESIA, PRIMARY, 46; CILD46		3
HP:0012261	HP:0012261	Abnormal respiratory motile cilium physiology	0	TTC12 CL E G H	54970	23700	OMIM:618801	CILIARY DYSKINESIA, PRIMARY, 45; CILD45
HP:0012261	HP:0012261	Abnormal respiratory motile cilium physiology	0	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22		20
HP:0012261	HP:0012262	Abnormal ciliary motility	1	CCDC103 CL E G H	388389	32700	OMIM:614679	Ciliary dyskinesia, primary, 17		36
HP:0012261	HP:0012262	Abnormal ciliary motility	1	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14	.	126
HP:0012261	HP:0012262	Abnormal ciliary motility	1	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15		182
HP:0012261	HP:0012262	Abnormal ciliary motility	1	CCDC65 CL E G H	85478	29937	OMIM:615504	Ciliary dyskinesia, primary, 27		23
HP:0012261	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	CCDC65 CL E G H	85478	29937	OMIM:615504	Ciliary dyskinesia, primary, 27	.	23
HP:0012261	HP:0012262	Abnormal ciliary motility	1	CCNO CL E G H	10309	18576	OMIM:615872	Ciliary dyskinesia, primary, 29		23
HP:0012261	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26	.
HP:0012261	HP:0012262	Abnormal ciliary motility	1	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0012261	HP:0012262	Abnormal ciliary motility	1	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13		116
HP:0012261	HP:0012262	Abnormal ciliary motility	1	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19
HP:0012261	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19	.
HP:0012261	HP:0012262	Abnormal ciliary motility	1	DNAAF2 CL E G H	55172	20188	OMIM:612518	CILIARY DYSKINESIA, PRIMARY, 10; CILD10		78
HP:0012261	HP:0012262	Abnormal ciliary motility	1	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2		63
HP:0012261	HP:0012262	Abnormal ciliary motility	1	DNAAF4 CL E G H	161582	21493	OMIM:615482	Ciliary dyskinesia, primary, 25		27
HP:0012261	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18	.	62
HP:0012261	HP:0012262	Abnormal ciliary motility	1	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18	.	62
HP:0012261	HP:0012262	Abnormal ciliary motility	1	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7		542
HP:0012261	HP:0012262	Abnormal ciliary motility	1	DNAH5 CL E G H	1767	2950	OMIM:608644	CILIARY DYSKINESIA, PRIMARY, 3; CILD3		527
HP:0012261	HP:0033158	Reduced respiratory ciliary beating frequency	1	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40		18
HP:0012261	HP:0012262	Abnormal ciliary motility	1	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1		73
HP:0012261	HP:0012262	Abnormal ciliary motility	1	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9		104
HP:0012261	HP:0033158	Reduced respiratory ciliary beating frequency	1	DNAJB13 CL E G H	374407	30718	OMIM:617091	CILIARY DYSKINESIA, PRIMARY, 34; CILD34		2
HP:0012261	HP:0012262	Abnormal ciliary motility	1	DNAL1 CL E G H	83544	23247	OMIM:614017	CILIARY DYSKINESIA, PRIMARY, 16; CILD16		167
HP:0012261	HP:0012262	Abnormal ciliary motility	1	DRC1 CL E G H	92749	24245	OMIM:615294	CILIARY DYSKINESIA, PRIMARY, 21; CILD21		44
HP:0012261	HP:0012262	Abnormal ciliary motility	1	GAS8 CL E G H	2622	4166	OMIM:616726	Ciliary dyskinesia, primary, 33		9
HP:0012261	HP:0012262	Abnormal ciliary motility	1	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5		21
HP:0012261	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5	.	21
HP:0012261	HP:0012262	Abnormal ciliary motility	1	NME8 CL E G H	51314	16473	OMIM:610852	Ciliary dyskinesia, primary, 6	.	50
HP:0012261	HP:0012262	Abnormal ciliary motility	1	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20
HP:0012261	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20	.
HP:0012261	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0012261	HP:0012262	Abnormal ciliary motility	1	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0012261	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30	.
HP:0012261	HP:0012262	Abnormal ciliary motility	1	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30
HP:0012261	HP:0012262	Abnormal ciliary motility	1	RSPH1 CL E G H	89765	12371	OMIM:615481	Ciliary dyskinesia, primary, 24		31
HP:0012261	HP:0012262	Abnormal ciliary motility	1	RSPH3 CL E G H	83861	21054	OMIM:616481	Ciliary dyskinesia, primary, 32		5
HP:0012261	HP:0012262	Abnormal ciliary motility	1	RSPH4A CL E G H	345895	21558	OMIM:612649	Ciliary dyskinesia, primary, 11	.	58
HP:0012261	HP:0012262	Abnormal ciliary motility	1	RSPH9 CL E G H	221421	21057	OMIM:612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12		20
HP:0012261	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28	.	45
HP:0012261	HP:0012262	Abnormal ciliary motility	1	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28		45
HP:0012261	HP:0012262	Abnormal ciliary motility	1	STK36 CL E G H	27148	17209	OMIM:619436	CILIARY DYSKINESIA, PRIMARY, 46; CILD46		3
HP:0012261	HP:0012262	Abnormal ciliary motility	1	TTC12 CL E G H	54970	23700	OMIM:618801	CILIARY DYSKINESIA, PRIMARY, 45; CILD45
HP:0012261	HP:0200073	Respiratory insufficiency due to defective ciliary clearance	1	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22	.	20
HP:0012261	HP:0012262	Abnormal ciliary motility	1	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22		20
HP:0012261	HP:0012265	Ciliary dyskinesia	2	CCDC103 CL E G H	388389	32700	OMIM:614679	Ciliary dyskinesia, primary, 17	.	36
HP:0012261	HP:0012265	Ciliary dyskinesia	2	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0012261	HP:0012265	Ciliary dyskinesia	2	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15		182
HP:0012261	HP:0012265	Ciliary dyskinesia	2	CCDC65 CL E G H	85478	29937	OMIM:615504	Ciliary dyskinesia, primary, 27	.	23
HP:0012261	HP:0012265	Ciliary dyskinesia	2	CCNO CL E G H	10309	18576	OMIM:615872	Ciliary dyskinesia, primary, 29		23
HP:0012261	HP:0012263	Immotile cilia	2	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0012261	HP:0012265	Ciliary dyskinesia	2	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0012261	HP:0012265	Ciliary dyskinesia	2	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13	.	116
HP:0012261	HP:0012263	Immotile cilia	2	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13		116
HP:0012261	HP:0012263	Immotile cilia	2	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19	.
HP:0012261	HP:0012265	Ciliary dyskinesia	2	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19	.
HP:0012261	HP:0012265	Ciliary dyskinesia	2	DNAAF2 CL E G H	55172	20188	OMIM:612518	CILIARY DYSKINESIA, PRIMARY, 10; CILD10		78
HP:0012261	HP:0012263	Immotile cilia	2	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2	.	63
HP:0012261	HP:0012265	Ciliary dyskinesia	2	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2	.	63
HP:0012261	HP:0012265	Ciliary dyskinesia	2	DNAAF4 CL E G H	161582	21493	OMIM:615482	Ciliary dyskinesia, primary, 25	.	27
HP:0012261	HP:0012263	Immotile cilia	2	DNAAF4 CL E G H	161582	21493	OMIM:615482	Ciliary dyskinesia, primary, 25	.	27
HP:0012261	HP:0012265	Ciliary dyskinesia	2	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18	.	62
HP:0012261	HP:0012265	Ciliary dyskinesia	2	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7		542
HP:0012261	HP:0012265	Ciliary dyskinesia	2	DNAH5 CL E G H	1767	2950	OMIM:608644	CILIARY DYSKINESIA, PRIMARY, 3; CILD3		527
HP:0012261	HP:0012263	Immotile cilia	2	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1	.	73
HP:0012261	HP:0012265	Ciliary dyskinesia	2	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1	.	73
HP:0012261	HP:0012265	Ciliary dyskinesia	2	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9		104
HP:0012261	HP:0012265	Ciliary dyskinesia	2	DNAL1 CL E G H	83544	23247	OMIM:614017	CILIARY DYSKINESIA, PRIMARY, 16; CILD16		167
HP:0012261	HP:0012265	Ciliary dyskinesia	2	DRC1 CL E G H	92749	24245	OMIM:615294	CILIARY DYSKINESIA, PRIMARY, 21; CILD21		44
HP:0012261	HP:0012265	Ciliary dyskinesia	2	GAS8 CL E G H	2622	4166	OMIM:616726	Ciliary dyskinesia, primary, 33		9
HP:0012261	HP:0012265	Ciliary dyskinesia	2	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5	.	21
HP:0012261	HP:0012265	Ciliary dyskinesia	2	NME8 CL E G H	51314	16473	OMIM:610852	Ciliary dyskinesia, primary, 6	.	50
HP:0012261	HP:0012265	Ciliary dyskinesia	2	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20	.
HP:0012261	HP:0012265	Ciliary dyskinesia	2	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0012261	HP:0012265	Ciliary dyskinesia	2	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30	.
HP:0012261	HP:0012265	Ciliary dyskinesia	2	RSPH1 CL E G H	89765	12371	OMIM:615481	Ciliary dyskinesia, primary, 24	.	31
HP:0012261	HP:0012265	Ciliary dyskinesia	2	RSPH3 CL E G H	83861	21054	OMIM:616481	Ciliary dyskinesia, primary, 32	.	5
HP:0012261	HP:0012263	Immotile cilia	2	RSPH3 CL E G H	83861	21054	OMIM:616481	Ciliary dyskinesia, primary, 32	.	5
HP:0012261	HP:0012265	Ciliary dyskinesia	2	RSPH4A CL E G H	345895	21558	OMIM:612649	Ciliary dyskinesia, primary, 11	.	58
HP:0012261	HP:0012263	Immotile cilia	2	RSPH4A CL E G H	345895	21558	OMIM:612649	Ciliary dyskinesia, primary, 11		58
HP:0012261	HP:0012265	Ciliary dyskinesia	2	RSPH9 CL E G H	221421	21057	OMIM:612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12		20
HP:0012261	HP:0012265	Ciliary dyskinesia	2	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28	.	45
HP:0012261	HP:0012265	Ciliary dyskinesia	2	STK36 CL E G H	27148	17209	OMIM:619436	CILIARY DYSKINESIA, PRIMARY, 46; CILD46		3
HP:0012261	HP:0012263	Immotile cilia	2	TTC12 CL E G H	54970	23700	OMIM:618801	CILIARY DYSKINESIA, PRIMARY, 45; CILD45
HP:0012261	HP:0012263	Immotile cilia	2	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22		20
HP:0012261	HP:0012265	Ciliary dyskinesia	2	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22	.	20