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:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome		175
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16		32
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome		62
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	ARL2BP CL E G H	23568	17146	OMIM:615434	Retinitis pigmentosa with or without situs inversus		3
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome		1
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome		28
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome		28
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome		34
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome		34
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome		1
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome		247
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	CCDC103 CL E G H	388389	32700	OMIM:614679	Ciliary dyskinesia, primary, 17		36
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia		36
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia		126
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15		182
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia		182
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia		23
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia		23
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome		5
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome		7
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome		342
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome		90
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	CFAP52 CL E G H	146845	16053	OMIM:619607	HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal		17
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal		13
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome		57
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome		57
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13		116
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia		116
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	DNAAF2 CL E G H	55172	20188	OMIM:612518	CILIARY DYSKINESIA, PRIMARY, 10; CILD10		78
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia		78
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2		63
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia		63
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	DNAAF4 CL E G H	161582	21493	OMIM:615482	Ciliary dyskinesia, primary, 25		27
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia		27
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18		62
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia		62
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	DNAAF6 CL E G H	139212	28570	OMIM:300991	Ciliary dyskinesia, primary, 36, X-linked
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	DNAH1 CL E G H	25981	2940	OMIM:617577	Ciliary dyskinesia, primary, 37		21
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia		21
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7		542
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia		542
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	DNAH5 CL E G H	1767	2950	OMIM:608644	CILIARY DYSKINESIA, PRIMARY, 3; CILD3		527
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia		527
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40		18
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia		18
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1		73
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia		73
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9		104
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia		104
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia		2
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	DNAL1 CL E G H	83544	23247	OMIM:614017	CILIARY DYSKINESIA, PRIMARY, 16; CILD16		167
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia		167
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia		44
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome		7
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome		209
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome		137
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia		1
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia		9
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)		28
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome		1
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	HES7 CL E G H	84667	15977	OMIM:613686	Spondylocostal dysostosis 4, autosomal recessive		10
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia		21
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome		31
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome		111
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2		106
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip		99
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome		24
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17		4
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia		13
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome		127
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome		127
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal		3
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	MNS1 CL E G H	55329	29636	OMIM:618948	HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip		12
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip		4
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2		43
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia		50
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	ODAD4 CL E G H	83538	25280	OMIM:617092	Ciliary dyskinesia, primary, 35
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia		201
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome		41
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome		4
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome		77
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal		3
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome		4
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia		200
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome		109
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome		167
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia		31
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia		5
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia		58
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia		20
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome		55
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28		45
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia		45
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia		15
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia		3
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome		124
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome		45
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome		45
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome		76
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome		76
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome		31
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome		4
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome		45
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome		33
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome		82
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome		82
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome		166
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome		166
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip		140
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	TTC8 CL E G H	123016	20087	OMIM:615985	Bardet-Biedl syndrome 8		41
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome		2
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome		177
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22		20
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia		20
HP:0011534	HP:0011534	Abnormal spatial orientation of the cardiac segments	0	ZNF423 CL E G H	23090	16762	OMIM:614844	Nephronophthisis 14		49
HP:0011534	HP:0011541	Criss-cross atrioventricular valves	1	CL E G H
HP:0011534	HP:0031592	Situs inversus with levocardia	1	CL E G H
HP:0011534	HP:0011544	L-looping of the right ventricle	1	CL E G H
HP:0011534	HP:0011543	Superior-inferior ventricles without criss-cross atrioventricular valves	1	CL E G H
HP:0011534	HP:0001696	Situs inversus totalis	1	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	175
HP:0011534	HP:0001696	Situs inversus totalis	1	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16	HP:0040283 - Occasional	32
HP:0011534	HP:0001696	Situs inversus totalis	1	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	62
HP:0011534	HP:0001696	Situs inversus totalis	1	ARL2BP CL E G H	23568	17146	OMIM:615434	Retinitis pigmentosa with or without situs inversus	HP:0040283 - Occasional	3
HP:0011534	HP:0001696	Situs inversus totalis	1	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	1
HP:0011534	HP:0001696	Situs inversus totalis	1	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0011534	HP:0001696	Situs inversus totalis	1	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	28
HP:0011534	HP:0001696	Situs inversus totalis	1	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	28
HP:0011534	HP:0001696	Situs inversus totalis	1	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	34
HP:0011534	HP:0001696	Situs inversus totalis	1	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	34
HP:0011534	HP:0001696	Situs inversus totalis	1	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	1
HP:0011534	HP:0001696	Situs inversus totalis	1	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	247
HP:0011534	HP:0001696	Situs inversus totalis	1	CCDC103 CL E G H	388389	32700	OMIM:614679	Ciliary dyskinesia, primary, 17	HP:0040283 - Occasional	36
HP:0011534	HP:0001696	Situs inversus totalis	1	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	36
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	36
HP:0011534	HP:0001696	Situs inversus totalis	1	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	126
HP:0011534	HP:0001696	Situs inversus totalis	1	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	126
HP:0011534	HP:0001696	Situs inversus totalis	1	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15		182
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	182
HP:0011534	HP:0001696	Situs inversus totalis	1	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	182
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	23
HP:0011534	HP:0001696	Situs inversus totalis	1	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	23
HP:0011534	HP:0001696	Situs inversus totalis	1	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	23
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	23
HP:0011534	HP:0001696	Situs inversus totalis	1	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	5
HP:0011534	HP:0001696	Situs inversus totalis	1	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	7
HP:0011534	HP:0001696	Situs inversus totalis	1	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	342
HP:0011534	HP:0001696	Situs inversus totalis	1	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	90
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011534	HP:0001696	Situs inversus totalis	1	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0011534	HP:0001696	Situs inversus totalis	1	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011534	HP:0001696	Situs inversus totalis	1	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0011534	HP:0001696	Situs inversus totalis	1	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38	.
HP:0011534	HP:0001696	Situs inversus totalis	1	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011534	HP:0001696	Situs inversus totalis	1	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0011534	HP:0001696	Situs inversus totalis	1	CFAP52 CL E G H	146845	16053	OMIM:619607	HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10
HP:0011534	HP:0001696	Situs inversus totalis	1	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal		17
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal		13
HP:0011534	HP:0001696	Situs inversus totalis	1	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal	.	13
HP:0011534	HP:0001696	Situs inversus totalis	1	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0011534	HP:0011540	Congenitally corrected transposition of the great arteries	1	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0011534	HP:0001696	Situs inversus totalis	1	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0011534	HP:0001696	Situs inversus totalis	1	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	57
HP:0011534	HP:0001696	Situs inversus totalis	1	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	57
HP:0011534	HP:0001696	Situs inversus totalis	1	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13	.	116
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	116
HP:0011534	HP:0001696	Situs inversus totalis	1	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	116
HP:0011534	HP:0001696	Situs inversus totalis	1	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19	HP:0040282 - Frequent
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011534	HP:0001696	Situs inversus totalis	1	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0011534	HP:0001696	Situs inversus totalis	1	DNAAF2 CL E G H	55172	20188	OMIM:612518	CILIARY DYSKINESIA, PRIMARY, 10; CILD10		78
HP:0011534	HP:0001696	Situs inversus totalis	1	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	78
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	78
HP:0011534	HP:0001696	Situs inversus totalis	1	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2	.	63
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	63
HP:0011534	HP:0001696	Situs inversus totalis	1	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	63
HP:0011534	HP:0001696	Situs inversus totalis	1	DNAAF4 CL E G H	161582	21493	OMIM:615482	Ciliary dyskinesia, primary, 25	.	27
HP:0011534	HP:0001696	Situs inversus totalis	1	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	27
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	27
HP:0011534	HP:0001696	Situs inversus totalis	1	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18	HP:0040282 - Frequent	62
HP:0011534	HP:0001696	Situs inversus totalis	1	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	62
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	62
HP:0011534	HP:0001696	Situs inversus totalis	1	DNAAF6 CL E G H	139212	28570	OMIM:300991	Ciliary dyskinesia, primary, 36, X-linked	.
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011534	HP:0001696	Situs inversus totalis	1	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0011534	HP:0001696	Situs inversus totalis	1	DNAH1 CL E G H	25981	2940	OMIM:617577	Ciliary dyskinesia, primary, 37	.	21
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	21
HP:0011534	HP:0001696	Situs inversus totalis	1	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	21
HP:0011534	HP:0001696	Situs inversus totalis	1	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7		542
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	542
HP:0011534	HP:0001696	Situs inversus totalis	1	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	542
HP:0011534	HP:0001696	Situs inversus totalis	1	DNAH5 CL E G H	1767	2950	OMIM:608644	CILIARY DYSKINESIA, PRIMARY, 3; CILD3		527
HP:0011534	HP:0001696	Situs inversus totalis	1	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	527
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	527
HP:0011534	HP:0011540	Congenitally corrected transposition of the great arteries	1	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40		18
HP:0011534	HP:0001696	Situs inversus totalis	1	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40	.	18
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	18
HP:0011534	HP:0001696	Situs inversus totalis	1	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	18
HP:0011534	HP:0001696	Situs inversus totalis	1	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1	.	73
HP:0011534	HP:0001696	Situs inversus totalis	1	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	73
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	73
HP:0011534	HP:0001696	Situs inversus totalis	1	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9		104
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	104
HP:0011534	HP:0001696	Situs inversus totalis	1	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	104
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	2
HP:0011534	HP:0001696	Situs inversus totalis	1	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	2
HP:0011534	HP:0001696	Situs inversus totalis	1	DNAL1 CL E G H	83544	23247	OMIM:614017	CILIARY DYSKINESIA, PRIMARY, 16; CILD16		167
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	167
HP:0011534	HP:0001696	Situs inversus totalis	1	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	167
HP:0011534	HP:0001696	Situs inversus totalis	1	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	44
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	44
HP:0011534	HP:0001696	Situs inversus totalis	1	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	7
HP:0011534	HP:0001696	Situs inversus totalis	1	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	209
HP:0011534	HP:0001696	Situs inversus totalis	1	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	137
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011534	HP:0001696	Situs inversus totalis	1	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0011534	HP:0001696	Situs inversus totalis	1	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	1
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	1
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	9
HP:0011534	HP:0001696	Situs inversus totalis	1	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	9
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)		28
HP:0011534	HP:0001696	Situs inversus totalis	1	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)		28
HP:0011534	HP:0001696	Situs inversus totalis	1	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	1
HP:0011534	HP:0001696	Situs inversus totalis	1	HES7 CL E G H	84667	15977	OMIM:613686	Spondylocostal dysostosis 4, autosomal recessive	.	10
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	21
HP:0011534	HP:0001696	Situs inversus totalis	1	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	21
HP:0011534	HP:0001696	Situs inversus totalis	1	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	31
HP:0011534	HP:0001696	Situs inversus totalis	1	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	111
HP:0011534	HP:0001696	Situs inversus totalis	1	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2	HP:0040283 - Occasional	106
HP:0011534	HP:0001696	Situs inversus totalis	1	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare	99
HP:0011534	HP:0001696	Situs inversus totalis	1	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0011534	HP:0001696	Situs inversus totalis	1	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	24
HP:0011534	HP:0001696	Situs inversus totalis	1	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011534	HP:0001696	Situs inversus totalis	1	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17		4
HP:0011534	HP:0001696	Situs inversus totalis	1	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	13
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	13
HP:0011534	HP:0001696	Situs inversus totalis	1	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	HP:0040283 - Occasional	13
HP:0011534	HP:0001696	Situs inversus totalis	1	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	127
HP:0011534	HP:0001696	Situs inversus totalis	1	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	127
HP:0011534	HP:0001696	Situs inversus totalis	1	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal		3
HP:0011534	HP:0001696	Situs inversus totalis	1	MNS1 CL E G H	55329	29636	OMIM:618948	HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9
HP:0011534	HP:0001696	Situs inversus totalis	1	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare	12
HP:0011534	HP:0001696	Situs inversus totalis	1	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare	4
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011534	HP:0001696	Situs inversus totalis	1	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0011534	HP:0001696	Situs inversus totalis	1	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2	HP:0040283 - Occasional	43
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	50
HP:0011534	HP:0001696	Situs inversus totalis	1	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	50
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0011534	HP:0001696	Situs inversus totalis	1	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0011534	HP:0001696	Situs inversus totalis	1	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0011534	HP:0001696	Situs inversus totalis	1	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20	HP:0040283 - Occasional
HP:0011534	HP:0001696	Situs inversus totalis	1	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011534	HP:0001696	Situs inversus totalis	1	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0011534	HP:0001696	Situs inversus totalis	1	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011534	HP:0001696	Situs inversus totalis	1	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30	.
HP:0011534	HP:0001696	Situs inversus totalis	1	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011534	HP:0001696	Situs inversus totalis	1	ODAD4 CL E G H	83538	25280	OMIM:617092	Ciliary dyskinesia, primary, 35	HP:0040283 - Occasional
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011534	HP:0001696	Situs inversus totalis	1	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	201
HP:0011534	HP:0001696	Situs inversus totalis	1	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	201
HP:0011534	HP:0001696	Situs inversus totalis	1	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent	41
HP:0011534	HP:0001696	Situs inversus totalis	1	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	4
HP:0011534	HP:0001696	Situs inversus totalis	1	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040283 - Occasional	77
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal		3
HP:0011534	HP:0011540	Congenitally corrected transposition of the great arteries	1	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal		3
HP:0011534	HP:0001696	Situs inversus totalis	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0011534	HP:0001696	Situs inversus totalis	1	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	2
HP:0011534	HP:0001696	Situs inversus totalis	1	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	2
HP:0011534	HP:0001696	Situs inversus totalis	1	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent	4
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	200
HP:0011534	HP:0001696	Situs inversus totalis	1	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	200
HP:0011534	HP:0001696	Situs inversus totalis	1	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	109
HP:0011534	HP:0001696	Situs inversus totalis	1	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	167
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	31
HP:0011534	HP:0001696	Situs inversus totalis	1	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	31
HP:0011534	HP:0001696	Situs inversus totalis	1	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	5
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	5
HP:0011534	HP:0001696	Situs inversus totalis	1	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	58
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	58
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	20
HP:0011534	HP:0001696	Situs inversus totalis	1	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	20
HP:0011534	HP:0001696	Situs inversus totalis	1	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome	HP:0040283 - Occasional	55
HP:0011534	HP:0001696	Situs inversus totalis	1	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0011534	HP:0001696	Situs inversus totalis	1	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28	.	45
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	45
HP:0011534	HP:0001696	Situs inversus totalis	1	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	45
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	15
HP:0011534	HP:0001696	Situs inversus totalis	1	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	15
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	3
HP:0011534	HP:0001696	Situs inversus totalis	1	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	3
HP:0011534	HP:0001696	Situs inversus totalis	1	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	124
HP:0011534	HP:0001696	Situs inversus totalis	1	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	45
HP:0011534	HP:0001696	Situs inversus totalis	1	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	45
HP:0011534	HP:0001696	Situs inversus totalis	1	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	76
HP:0011534	HP:0001696	Situs inversus totalis	1	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	76
HP:0011534	HP:0001696	Situs inversus totalis	1	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	31
HP:0011534	HP:0001696	Situs inversus totalis	1	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	4
HP:0011534	HP:0001696	Situs inversus totalis	1	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	45
HP:0011534	HP:0001696	Situs inversus totalis	1	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0011534	HP:0001696	Situs inversus totalis	1	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	33
HP:0011534	HP:0001696	Situs inversus totalis	1	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	82
HP:0011534	HP:0001696	Situs inversus totalis	1	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	82
HP:0011534	HP:0001696	Situs inversus totalis	1	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	166
HP:0011534	HP:0001696	Situs inversus totalis	1	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	166
HP:0011534	HP:0001696	Situs inversus totalis	1	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0011534	HP:0001696	Situs inversus totalis	1	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare	140
HP:0011534	HP:0001696	Situs inversus totalis	1	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011534	HP:0001696	Situs inversus totalis	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0011534	HP:0001696	Situs inversus totalis	1	TTC8 CL E G H	123016	20087	OMIM:615985	Bardet-Biedl syndrome 8	HP:0040283 - Occasional	41
HP:0011534	HP:0001696	Situs inversus totalis	1	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	2
HP:0011534	HP:0001696	Situs inversus totalis	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0011534	HP:0001696	Situs inversus totalis	1	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome	HP:0040283 - Occasional	177
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0011534	HP:0001696	Situs inversus totalis	1	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22	.	20
HP:0011534	HP:0001696	Situs inversus totalis	1	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	20
HP:0011534	HP:0011535	Abnormal atrial arrangement	1	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	20
HP:0011534	HP:0001696	Situs inversus totalis	1	ZNF423 CL E G H	23090	16762	OMIM:614844	Nephronophthisis 14	HP:0040283 - Occasional	49
HP:0011534	HP:0011542	Criss-cross atrioventricular valves with superior-inferior ventricles	2	CL E G H
HP:0011534	HP:0011539	Atrial situs ambiguous	2	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	36
HP:0011534	HP:0011539	Atrial situs ambiguous	2	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	126
HP:0011534	HP:0011539	Atrial situs ambiguous	2	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	182
HP:0011534	HP:0011539	Atrial situs ambiguous	2	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	23
HP:0011534	HP:0011539	Atrial situs ambiguous	2	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	23
HP:0011534	HP:0011539	Atrial situs ambiguous	2	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011534	HP:0011539	Atrial situs ambiguous	2	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011534	HP:0011539	Atrial situs ambiguous	2	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011534	HP:0011537	Left atrial isomerism	2	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal	.	13
HP:0011534	HP:0011539	Atrial situs ambiguous	2	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	116
HP:0011534	HP:0011539	Atrial situs ambiguous	2	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011534	HP:0011539	Atrial situs ambiguous	2	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	78
HP:0011534	HP:0011539	Atrial situs ambiguous	2	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	63
HP:0011534	HP:0011539	Atrial situs ambiguous	2	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	27
HP:0011534	HP:0011539	Atrial situs ambiguous	2	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	62
HP:0011534	HP:0011539	Atrial situs ambiguous	2	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011534	HP:0011539	Atrial situs ambiguous	2	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	21
HP:0011534	HP:0011539	Atrial situs ambiguous	2	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	542
HP:0011534	HP:0011539	Atrial situs ambiguous	2	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	527
HP:0011534	HP:0011539	Atrial situs ambiguous	2	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	18
HP:0011534	HP:0011539	Atrial situs ambiguous	2	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	73
HP:0011534	HP:0011539	Atrial situs ambiguous	2	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	104
HP:0011534	HP:0011539	Atrial situs ambiguous	2	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	2
HP:0011534	HP:0011539	Atrial situs ambiguous	2	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	167
HP:0011534	HP:0011539	Atrial situs ambiguous	2	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	44
HP:0011534	HP:0011539	Atrial situs ambiguous	2	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011534	HP:0011539	Atrial situs ambiguous	2	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	1
HP:0011534	HP:0011539	Atrial situs ambiguous	2	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	9
HP:0011534	HP:0011536	Right atrial isomerism	2	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)		28
HP:0011534	HP:0011539	Atrial situs ambiguous	2	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	21
HP:0011534	HP:0011539	Atrial situs ambiguous	2	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011534	HP:0011539	Atrial situs ambiguous	2	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	13
HP:0011534	HP:0011539	Atrial situs ambiguous	2	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011534	HP:0011539	Atrial situs ambiguous	2	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	50
HP:0011534	HP:0011536	Right atrial isomerism	2	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0011534	HP:0011539	Atrial situs ambiguous	2	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011534	HP:0011539	Atrial situs ambiguous	2	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011534	HP:0011539	Atrial situs ambiguous	2	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011534	HP:0011539	Atrial situs ambiguous	2	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011534	HP:0011539	Atrial situs ambiguous	2	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	201
HP:0011534	HP:0011539	Atrial situs ambiguous	2	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal	.	3
HP:0011534	HP:0011605	Congenitally corrected transposition of the great arteries with ventricular septal defect	2	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal		3
HP:0011534	HP:0011538	Atrial situs inversus	2	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal		3
HP:0011534	HP:0011539	Atrial situs ambiguous	2	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	200
HP:0011534	HP:0011539	Atrial situs ambiguous	2	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	31
HP:0011534	HP:0011539	Atrial situs ambiguous	2	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	5
HP:0011534	HP:0011539	Atrial situs ambiguous	2	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	58
HP:0011534	HP:0011539	Atrial situs ambiguous	2	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	20
HP:0011534	HP:0011539	Atrial situs ambiguous	2	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	45
HP:0011534	HP:0011539	Atrial situs ambiguous	2	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	15
HP:0011534	HP:0011539	Atrial situs ambiguous	2	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	3
HP:0011534	HP:0011539	Atrial situs ambiguous	2	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011534	HP:0011536	Right atrial isomerism	2	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0011534	HP:0011539	Atrial situs ambiguous	2	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	20