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:0004307	HP:0004307	Abnormal anatomic location of the heart	0	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal		161
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome		175
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect		175
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16		32
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome		62
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	ARL2BP CL E G H	23568	17146	OMIM:615434	Retinitis pigmentosa with or without situs inversus		3
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome		1
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome		28
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome		28
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome		34
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome		34
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome		1
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome		247
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	CCDC103 CL E G H	388389	32700	OMIM:614679	Ciliary dyskinesia, primary, 17		36
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia		36
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia		126
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15		182
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia		182
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia		23
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia		23
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome		5
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome		7
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect		7
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome		342
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome		90
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect		90
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	CFAP52 CL E G H	146845	16053	OMIM:619607	HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal		17
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal		13
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome		177
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	CRELD1 CL E G H	78987	14630	OMIM:606217	Atrioventricular septal defect, susceptibility to, 2		19
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome		57
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome		57
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13		116
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia		116
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	DNAAF2 CL E G H	55172	20188	OMIM:612518	CILIARY DYSKINESIA, PRIMARY, 10; CILD10		78
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia		78
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2		63
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia		63
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	DNAAF4 CL E G H	161582	21493	OMIM:615482	Ciliary dyskinesia, primary, 25		27
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia		27
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18		62
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia		62
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	DNAAF6 CL E G H	139212	28570	OMIM:300991	Ciliary dyskinesia, primary, 36, X-linked
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	DNAH1 CL E G H	25981	2940	OMIM:617577	Ciliary dyskinesia, primary, 37		21
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia		21
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7		542
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia		542
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	DNAH5 CL E G H	1767	2950	OMIM:608644	CILIARY DYSKINESIA, PRIMARY, 3; CILD3		527
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia		527
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40		18
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia		18
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1		73
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia		73
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9		104
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia		104
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia		2
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	DNAL1 CL E G H	83544	23247	OMIM:614017	CILIARY DYSKINESIA, PRIMARY, 16; CILD16		167
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia		167
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia		44
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome		7
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome		209
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome		137
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked		58
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia		1
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia		9
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	GATA4 CL E G H	2626	4173	OMIM:607941	Atrial septal defect 2		87
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)		28
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome		1
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	HES7 CL E G H	84667	15977	OMIM:613686	Spondylocostal dysostosis 4, autosomal recessive		10
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia		21
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome		31
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome		111
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect		111
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2		106
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip		99
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome		24
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy		645
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	LRRC56 CL E G H	115399	25430	OMIM:618254	CILIARY DYSKINESIA, PRIMARY, 39; CILD39
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17		4
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia		13
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome		127
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect		127
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome		127
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal		3
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	MNS1 CL E G H	55329	29636	OMIM:618948	HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip		12
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome		2
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip		4
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2		43
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia		50
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	ODAD4 CL E G H	83538	25280	OMIM:617092	Ciliary dyskinesia, primary, 35
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia		201
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome		41
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome		4
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040283 - Occasional	77
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal		3
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2		106
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome		2
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome		4
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia		200
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome		109
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome		167
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia		31
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia		5
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia		58
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia		20
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome		55
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8		7
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28		45
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia		45
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia		15
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome		138
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia		3
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome		124
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome		45
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome		45
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome		76
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome		76
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome		31
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome		6
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome		4
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome		45
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome		33
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome		82
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome		82
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome		166
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome		166
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip		140
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	TTC8 CL E G H	123016	20087	OMIM:615985	Bardet-Biedl syndrome 8		41
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome		2
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome		25
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome		177
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked		39
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy		83
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22		20
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia		20
HP:0004307	HP:0004307	Abnormal anatomic location of the heart	0	ZNF423 CL E G H	23090	16762	OMIM:614844	Nephronophthisis 14		49
HP:0004307	HP:0001683	Ectopia cordis	1	CL E G H
HP:0004307	HP:0011600	Abnormal direction of ventricular apex	1	CL E G H
HP:0004307	HP:0001651	Dextrocardia	1	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal	.	161
HP:0004307	HP:0001651	Dextrocardia	1	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome		175
HP:0004307	HP:0001651	Dextrocardia	1	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	175
HP:0004307	HP:0001651	Dextrocardia	1	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16		32
HP:0004307	HP:0001651	Dextrocardia	1	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome		62
HP:0004307	HP:0001651	Dextrocardia	1	ARL2BP CL E G H	23568	17146	OMIM:615434	Retinitis pigmentosa with or without situs inversus		3
HP:0004307	HP:0001651	Dextrocardia	1	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome		1
HP:0004307	HP:0001651	Dextrocardia	1	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome
HP:0004307	HP:0001651	Dextrocardia	1	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome		28
HP:0004307	HP:0001651	Dextrocardia	1	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome		28
HP:0004307	HP:0001651	Dextrocardia	1	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome		34
HP:0004307	HP:0001651	Dextrocardia	1	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome		34
HP:0004307	HP:0001651	Dextrocardia	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	HP:0040283 - Occasional	101
HP:0004307	HP:0001651	Dextrocardia	1	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome		1
HP:0004307	HP:0001651	Dextrocardia	1	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome		247
HP:0004307	HP:0001651	Dextrocardia	1	CCDC103 CL E G H	388389	32700	OMIM:614679	Ciliary dyskinesia, primary, 17	HP:0040283 - Occasional	36
HP:0004307	HP:0001651	Dextrocardia	1	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia		36
HP:0004307	HP:0001651	Dextrocardia	1	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0004307	HP:0001651	Dextrocardia	1	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia		126
HP:0004307	HP:0001651	Dextrocardia	1	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15		182
HP:0004307	HP:0001651	Dextrocardia	1	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia		182
HP:0004307	HP:0001651	Dextrocardia	1	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia		23
HP:0004307	HP:0001651	Dextrocardia	1	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia		23
HP:0004307	HP:0001651	Dextrocardia	1	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0004307	HP:0001651	Dextrocardia	1	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome		5
HP:0004307	HP:0001651	Dextrocardia	1	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome		7
HP:0004307	HP:0001651	Dextrocardia	1	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	7
HP:0004307	HP:0001651	Dextrocardia	1	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome		342
HP:0004307	HP:0001651	Dextrocardia	1	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome		90
HP:0004307	HP:0001651	Dextrocardia	1	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	90
HP:0004307	HP:0001651	Dextrocardia	1	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0004307	HP:0001651	Dextrocardia	1	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0004307	HP:0001651	Dextrocardia	1	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0004307	HP:0001651	Dextrocardia	1	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38	HP:0040284 - Very rare
HP:0004307	HP:0001651	Dextrocardia	1	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0004307	HP:0001651	Dextrocardia	1	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0004307	HP:0001651	Dextrocardia	1	CFAP52 CL E G H	146845	16053	OMIM:619607	HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10
HP:0004307	HP:0001651	Dextrocardia	1	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal	.	17
HP:0004307	HP:0011599	Mesocardia	1	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal	.	13
HP:0004307	HP:0001651	Dextrocardia	1	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal	.	13
HP:0004307	HP:0001651	Dextrocardia	1	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0004307	HP:0001651	Dextrocardia	1	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome	HP:0040283 - Occasional	177
HP:0004307	HP:0001651	Dextrocardia	1	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome
HP:0004307	HP:0001651	Dextrocardia	1	CRELD1 CL E G H	78987	14630	OMIM:606217	Atrioventricular septal defect, susceptibility to, 2	.	19
HP:0004307	HP:0001651	Dextrocardia	1	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome		57
HP:0004307	HP:0001651	Dextrocardia	1	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome		57
HP:0004307	HP:0001651	Dextrocardia	1	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13		116
HP:0004307	HP:0001651	Dextrocardia	1	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia		116
HP:0004307	HP:0001651	Dextrocardia	1	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19
HP:0004307	HP:0001651	Dextrocardia	1	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0004307	HP:0001651	Dextrocardia	1	DNAAF2 CL E G H	55172	20188	OMIM:612518	CILIARY DYSKINESIA, PRIMARY, 10; CILD10		78
HP:0004307	HP:0001651	Dextrocardia	1	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia		78
HP:0004307	HP:0001651	Dextrocardia	1	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2	.	63
HP:0004307	HP:0001651	Dextrocardia	1	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia		63
HP:0004307	HP:0001651	Dextrocardia	1	DNAAF4 CL E G H	161582	21493	OMIM:615482	Ciliary dyskinesia, primary, 25	HP:0040283 - Occasional	27
HP:0004307	HP:0001651	Dextrocardia	1	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia		27
HP:0004307	HP:0001651	Dextrocardia	1	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18		62
HP:0004307	HP:0001651	Dextrocardia	1	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia		62
HP:0004307	HP:0001651	Dextrocardia	1	DNAAF6 CL E G H	139212	28570	OMIM:300991	Ciliary dyskinesia, primary, 36, X-linked
HP:0004307	HP:0001651	Dextrocardia	1	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0004307	HP:0001651	Dextrocardia	1	DNAH1 CL E G H	25981	2940	OMIM:617577	Ciliary dyskinesia, primary, 37	.	21
HP:0004307	HP:0001651	Dextrocardia	1	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia		21
HP:0004307	HP:0001651	Dextrocardia	1	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7		542
HP:0004307	HP:0001651	Dextrocardia	1	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia		542
HP:0004307	HP:0001651	Dextrocardia	1	DNAH5 CL E G H	1767	2950	OMIM:608644	CILIARY DYSKINESIA, PRIMARY, 3; CILD3		527
HP:0004307	HP:0001651	Dextrocardia	1	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia		527
HP:0004307	HP:0001651	Dextrocardia	1	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40		18
HP:0004307	HP:0001651	Dextrocardia	1	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia		18
HP:0004307	HP:0001651	Dextrocardia	1	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1		73
HP:0004307	HP:0001651	Dextrocardia	1	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia		73
HP:0004307	HP:0001651	Dextrocardia	1	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9		104
HP:0004307	HP:0001651	Dextrocardia	1	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia		104
HP:0004307	HP:0001651	Dextrocardia	1	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia		2
HP:0004307	HP:0001651	Dextrocardia	1	DNAL1 CL E G H	83544	23247	OMIM:614017	CILIARY DYSKINESIA, PRIMARY, 16; CILD16		167
HP:0004307	HP:0001651	Dextrocardia	1	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia		167
HP:0004307	HP:0001651	Dextrocardia	1	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia		44
HP:0004307	HP:0001651	Dextrocardia	1	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	7
HP:0004307	HP:0001651	Dextrocardia	1	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	209
HP:0004307	HP:0001651	Dextrocardia	1	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	137
HP:0004307	HP:0001651	Dextrocardia	1	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked		58
HP:0004307	HP:0001651	Dextrocardia	1	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0004307	HP:0001651	Dextrocardia	1	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia		1
HP:0004307	HP:0001651	Dextrocardia	1	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia		9
HP:0004307	HP:0001651	Dextrocardia	1	GATA4 CL E G H	2626	4173	OMIM:607941	Atrial septal defect 2		87
HP:0004307	HP:0001651	Dextrocardia	1	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)		28
HP:0004307	HP:0001651	Dextrocardia	1	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	1
HP:0004307	HP:0001651	Dextrocardia	1	HES7 CL E G H	84667	15977	OMIM:613686	Spondylocostal dysostosis 4, autosomal recessive	.	10
HP:0004307	HP:0001651	Dextrocardia	1	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia		21
HP:0004307	HP:0001651	Dextrocardia	1	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome		31
HP:0004307	HP:0001651	Dextrocardia	1	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome		111
HP:0004307	HP:0001651	Dextrocardia	1	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	111
HP:0004307	HP:0001651	Dextrocardia	1	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2		106
HP:0004307	HP:0001651	Dextrocardia	1	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip		99
HP:0004307	HP:0001651	Dextrocardia	1	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome
HP:0004307	HP:0001651	Dextrocardia	1	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome		24
HP:0004307	HP:0001651	Dextrocardia	1	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0004307	HP:0001651	Dextrocardia	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional	645
HP:0004307	HP:0001651	Dextrocardia	1	LRRC56 CL E G H	115399	25430	OMIM:618254	CILIARY DYSKINESIA, PRIMARY, 39; CILD39
HP:0004307	HP:0001651	Dextrocardia	1	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0004307	HP:0001651	Dextrocardia	1	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17		4
HP:0004307	HP:0001651	Dextrocardia	1	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia		13
HP:0004307	HP:0001651	Dextrocardia	1	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0004307	HP:0001651	Dextrocardia	1	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome		127
HP:0004307	HP:0001651	Dextrocardia	1	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	127
HP:0004307	HP:0001651	Dextrocardia	1	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome		127
HP:0004307	HP:0001651	Dextrocardia	1	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal		3
HP:0004307	HP:0001651	Dextrocardia	1	MNS1 CL E G H	55329	29636	OMIM:618948	HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9
HP:0004307	HP:0001651	Dextrocardia	1	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip		12
HP:0004307	HP:0001651	Dextrocardia	1	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome	.	2
HP:0004307	HP:0011599	Mesocardia	1	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome		2
HP:0004307	HP:0001651	Dextrocardia	1	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip		4
HP:0004307	HP:0001651	Dextrocardia	1	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0004307	HP:0001651	Dextrocardia	1	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2		43
HP:0004307	HP:0001651	Dextrocardia	1	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia		50
HP:0004307	HP:0001651	Dextrocardia	1	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0004307	HP:0001651	Dextrocardia	1	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0004307	HP:0001651	Dextrocardia	1	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0004307	HP:0001651	Dextrocardia	1	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20	HP:0040283 - Occasional
HP:0004307	HP:0001651	Dextrocardia	1	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0004307	HP:0001651	Dextrocardia	1	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0004307	HP:0001651	Dextrocardia	1	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0004307	HP:0001651	Dextrocardia	1	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30	HP:0040283 - Occasional
HP:0004307	HP:0001651	Dextrocardia	1	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0004307	HP:0001651	Dextrocardia	1	ODAD4 CL E G H	83538	25280	OMIM:617092	Ciliary dyskinesia, primary, 35
HP:0004307	HP:0001651	Dextrocardia	1	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0004307	HP:0001651	Dextrocardia	1	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia		201
HP:0004307	HP:0001651	Dextrocardia	1	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome		41
HP:0004307	HP:0001651	Dextrocardia	1	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome	HP:0040283 - Occasional
HP:0004307	HP:0001651	Dextrocardia	1	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome		4
HP:0004307	HP:0001651	Dextrocardia	1	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.	77
HP:0004307	HP:0001651	Dextrocardia	1	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040283 - Occasional	77
HP:0004307	HP:0001651	Dextrocardia	1	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal		3
HP:0004307	HP:0001651	Dextrocardia	1	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2	HP:0040283 - Occasional	106
HP:0004307	HP:0001651	Dextrocardia	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0004307	HP:0001651	Dextrocardia	1	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	2
HP:0004307	HP:0001651	Dextrocardia	1	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	2
HP:0004307	HP:0001651	Dextrocardia	1	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome		4
HP:0004307	HP:0001651	Dextrocardia	1	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia		200
HP:0004307	HP:0001651	Dextrocardia	1	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome		109
HP:0004307	HP:0001651	Dextrocardia	1	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome		167
HP:0004307	HP:0001651	Dextrocardia	1	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia		31
HP:0004307	HP:0001651	Dextrocardia	1	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia		5
HP:0004307	HP:0001651	Dextrocardia	1	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia		58
HP:0004307	HP:0001651	Dextrocardia	1	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia		20
HP:0004307	HP:0001651	Dextrocardia	1	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040284 - Very rare
HP:0004307	HP:0001651	Dextrocardia	1	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome		55
HP:0004307	HP:0001651	Dextrocardia	1	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0004307	HP:0001651	Dextrocardia	1	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8		7
HP:0004307	HP:0001651	Dextrocardia	1	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28		45
HP:0004307	HP:0001651	Dextrocardia	1	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia		45
HP:0004307	HP:0001651	Dextrocardia	1	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia		15
HP:0004307	HP:0011599	Mesocardia	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0004307	HP:0011599	Mesocardia	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040284 - Very rare	138
HP:0004307	HP:0001651	Dextrocardia	1	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia		3
HP:0004307	HP:0001651	Dextrocardia	1	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome		124
HP:0004307	HP:0001651	Dextrocardia	1	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome		45
HP:0004307	HP:0001651	Dextrocardia	1	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome		45
HP:0004307	HP:0001651	Dextrocardia	1	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome		76
HP:0004307	HP:0001651	Dextrocardia	1	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome		76
HP:0004307	HP:0001651	Dextrocardia	1	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome		31
HP:0004307	HP:0001651	Dextrocardia	1	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome	.	6
HP:0004307	HP:0001651	Dextrocardia	1	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome		4
HP:0004307	HP:0001651	Dextrocardia	1	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome		45
HP:0004307	HP:0001651	Dextrocardia	1	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome
HP:0004307	HP:0001651	Dextrocardia	1	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome		33
HP:0004307	HP:0001651	Dextrocardia	1	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome		82
HP:0004307	HP:0001651	Dextrocardia	1	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome		82
HP:0004307	HP:0001651	Dextrocardia	1	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome		166
HP:0004307	HP:0001651	Dextrocardia	1	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome		166
HP:0004307	HP:0001651	Dextrocardia	1	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome
HP:0004307	HP:0001651	Dextrocardia	1	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip		140
HP:0004307	HP:0001651	Dextrocardia	1	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0004307	HP:0001651	Dextrocardia	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0004307	HP:0001651	Dextrocardia	1	TTC8 CL E G H	123016	20087	OMIM:615985	Bardet-Biedl syndrome 8		41
HP:0004307	HP:0001651	Dextrocardia	1	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome		2
HP:0004307	HP:0001651	Dextrocardia	1	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome	HP:0040283 - Occasional	25
HP:0004307	HP:0001651	Dextrocardia	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0004307	HP:0001651	Dextrocardia	1	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome		177
HP:0004307	HP:0001651	Dextrocardia	1	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0004307	HP:0001651	Dextrocardia	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked	.	39
HP:0004307	HP:0001651	Dextrocardia	1	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked		39
HP:0004307	HP:0001651	Dextrocardia	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional	83
HP:0004307	HP:0001651	Dextrocardia	1	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22		20
HP:0004307	HP:0001651	Dextrocardia	1	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia		20
HP:0004307	HP:0001651	Dextrocardia	1	ZNF423 CL E G H	23090	16762	OMIM:614844	Nephronophthisis 14		49
HP:0004307	HP:0011585	Thoracic ectopia cordis	2	CL E G H
HP:0004307	HP:0011584	Thoracocervical ectopia cordis	2	CL E G H
HP:0004307	HP:0011583	Cervical ectopia cordis	2	CL E G H
HP:0004307	HP:0011602	Midline direction of ventricular apex	2	CL E G H
HP:0004307	HP:0011582	Abdominal ectopia cordis	2	CL E G H
HP:0004307	HP:0011601	Rightward direction of ventricular apex	2	CL E G H
HP:0004307	HP:0011586	Thoracoabdominal ectopia cordis	2	CL E G H
HP:0004307	HP:0001696	Situs inversus totalis	2	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	175
HP:0004307	HP:0001696	Situs inversus totalis	2	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16	HP:0040283 - Occasional	32
HP:0004307	HP:0001696	Situs inversus totalis	2	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	62
HP:0004307	HP:0001696	Situs inversus totalis	2	ARL2BP CL E G H	23568	17146	OMIM:615434	Retinitis pigmentosa with or without situs inversus	HP:0040283 - Occasional	3
HP:0004307	HP:0001696	Situs inversus totalis	2	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	1
HP:0004307	HP:0001696	Situs inversus totalis	2	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0004307	HP:0001696	Situs inversus totalis	2	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	28
HP:0004307	HP:0001696	Situs inversus totalis	2	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	28
HP:0004307	HP:0001696	Situs inversus totalis	2	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	34
HP:0004307	HP:0001696	Situs inversus totalis	2	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	34
HP:0004307	HP:0001696	Situs inversus totalis	2	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	1
HP:0004307	HP:0001696	Situs inversus totalis	2	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	247
HP:0004307	HP:0001696	Situs inversus totalis	2	CCDC103 CL E G H	388389	32700	OMIM:614679	Ciliary dyskinesia, primary, 17	HP:0040283 - Occasional	36
HP:0004307	HP:0001696	Situs inversus totalis	2	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	36
HP:0004307	HP:0001696	Situs inversus totalis	2	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0004307	HP:0001696	Situs inversus totalis	2	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	126
HP:0004307	HP:0001696	Situs inversus totalis	2	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15		182
HP:0004307	HP:0001696	Situs inversus totalis	2	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	182
HP:0004307	HP:0001696	Situs inversus totalis	2	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	23
HP:0004307	HP:0001696	Situs inversus totalis	2	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	23
HP:0004307	HP:0001696	Situs inversus totalis	2	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	5
HP:0004307	HP:0001696	Situs inversus totalis	2	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	7
HP:0004307	HP:0001696	Situs inversus totalis	2	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	342
HP:0004307	HP:0001696	Situs inversus totalis	2	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	90
HP:0004307	HP:0001696	Situs inversus totalis	2	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0004307	HP:0001696	Situs inversus totalis	2	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0004307	HP:0001696	Situs inversus totalis	2	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0004307	HP:0001696	Situs inversus totalis	2	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38	.
HP:0004307	HP:0001696	Situs inversus totalis	2	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0004307	HP:0001696	Situs inversus totalis	2	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0004307	HP:0001696	Situs inversus totalis	2	CFAP52 CL E G H	146845	16053	OMIM:619607	HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10
HP:0004307	HP:0001696	Situs inversus totalis	2	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal		17
HP:0004307	HP:0001696	Situs inversus totalis	2	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal	.	13
HP:0004307	HP:0001696	Situs inversus totalis	2	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0004307	HP:0001696	Situs inversus totalis	2	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0004307	HP:0001696	Situs inversus totalis	2	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	57
HP:0004307	HP:0001696	Situs inversus totalis	2	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	57
HP:0004307	HP:0001696	Situs inversus totalis	2	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13	.	116
HP:0004307	HP:0001696	Situs inversus totalis	2	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	116
HP:0004307	HP:0001696	Situs inversus totalis	2	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19	HP:0040282 - Frequent
HP:0004307	HP:0001696	Situs inversus totalis	2	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0004307	HP:0001696	Situs inversus totalis	2	DNAAF2 CL E G H	55172	20188	OMIM:612518	CILIARY DYSKINESIA, PRIMARY, 10; CILD10		78
HP:0004307	HP:0001696	Situs inversus totalis	2	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	78
HP:0004307	HP:0001696	Situs inversus totalis	2	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2	.	63
HP:0004307	HP:0001696	Situs inversus totalis	2	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	63
HP:0004307	HP:0001696	Situs inversus totalis	2	DNAAF4 CL E G H	161582	21493	OMIM:615482	Ciliary dyskinesia, primary, 25	.	27
HP:0004307	HP:0001696	Situs inversus totalis	2	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	27
HP:0004307	HP:0001696	Situs inversus totalis	2	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18	HP:0040282 - Frequent	62
HP:0004307	HP:0001696	Situs inversus totalis	2	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	62
HP:0004307	HP:0001696	Situs inversus totalis	2	DNAAF6 CL E G H	139212	28570	OMIM:300991	Ciliary dyskinesia, primary, 36, X-linked	.
HP:0004307	HP:0001696	Situs inversus totalis	2	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0004307	HP:0001696	Situs inversus totalis	2	DNAH1 CL E G H	25981	2940	OMIM:617577	Ciliary dyskinesia, primary, 37	.	21
HP:0004307	HP:0001696	Situs inversus totalis	2	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	21
HP:0004307	HP:0001696	Situs inversus totalis	2	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7		542
HP:0004307	HP:0001696	Situs inversus totalis	2	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	542
HP:0004307	HP:0001696	Situs inversus totalis	2	DNAH5 CL E G H	1767	2950	OMIM:608644	CILIARY DYSKINESIA, PRIMARY, 3; CILD3		527
HP:0004307	HP:0001696	Situs inversus totalis	2	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	527
HP:0004307	HP:0001696	Situs inversus totalis	2	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40	.	18
HP:0004307	HP:0001696	Situs inversus totalis	2	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	18
HP:0004307	HP:0001696	Situs inversus totalis	2	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1	.	73
HP:0004307	HP:0001696	Situs inversus totalis	2	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	73
HP:0004307	HP:0001696	Situs inversus totalis	2	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9		104
HP:0004307	HP:0001696	Situs inversus totalis	2	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	104
HP:0004307	HP:0001696	Situs inversus totalis	2	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	2
HP:0004307	HP:0001696	Situs inversus totalis	2	DNAL1 CL E G H	83544	23247	OMIM:614017	CILIARY DYSKINESIA, PRIMARY, 16; CILD16		167
HP:0004307	HP:0001696	Situs inversus totalis	2	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	167
HP:0004307	HP:0001696	Situs inversus totalis	2	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	44
HP:0004307	HP:0001696	Situs inversus totalis	2	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	7
HP:0004307	HP:0001696	Situs inversus totalis	2	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	209
HP:0004307	HP:0001696	Situs inversus totalis	2	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	137
HP:0004307	HP:0001696	Situs inversus totalis	2	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0004307	HP:0001696	Situs inversus totalis	2	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	1
HP:0004307	HP:0001696	Situs inversus totalis	2	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	9
HP:0004307	HP:0001696	Situs inversus totalis	2	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)		28
HP:0004307	HP:0001696	Situs inversus totalis	2	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	1
HP:0004307	HP:0001696	Situs inversus totalis	2	HES7 CL E G H	84667	15977	OMIM:613686	Spondylocostal dysostosis 4, autosomal recessive	.	10
HP:0004307	HP:0001696	Situs inversus totalis	2	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	21
HP:0004307	HP:0001696	Situs inversus totalis	2	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	31
HP:0004307	HP:0001696	Situs inversus totalis	2	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	111
HP:0004307	HP:0001696	Situs inversus totalis	2	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2	HP:0040283 - Occasional	106
HP:0004307	HP:0001696	Situs inversus totalis	2	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare	99
HP:0004307	HP:0001696	Situs inversus totalis	2	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0004307	HP:0001696	Situs inversus totalis	2	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	24
HP:0004307	HP:0001696	Situs inversus totalis	2	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0004307	HP:0001696	Situs inversus totalis	2	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17		4
HP:0004307	HP:0001696	Situs inversus totalis	2	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	13
HP:0004307	HP:0001696	Situs inversus totalis	2	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	HP:0040283 - Occasional	13
HP:0004307	HP:0001696	Situs inversus totalis	2	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	127
HP:0004307	HP:0001696	Situs inversus totalis	2	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	127
HP:0004307	HP:0001696	Situs inversus totalis	2	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal		3
HP:0004307	HP:0001696	Situs inversus totalis	2	MNS1 CL E G H	55329	29636	OMIM:618948	HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9
HP:0004307	HP:0001696	Situs inversus totalis	2	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare	12
HP:0004307	HP:0001696	Situs inversus totalis	2	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare	4
HP:0004307	HP:0001696	Situs inversus totalis	2	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0004307	HP:0001696	Situs inversus totalis	2	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2	HP:0040283 - Occasional	43
HP:0004307	HP:0001696	Situs inversus totalis	2	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	50
HP:0004307	HP:0001696	Situs inversus totalis	2	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0004307	HP:0001696	Situs inversus totalis	2	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0004307	HP:0001696	Situs inversus totalis	2	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20	HP:0040283 - Occasional
HP:0004307	HP:0001696	Situs inversus totalis	2	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0004307	HP:0001696	Situs inversus totalis	2	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0004307	HP:0001696	Situs inversus totalis	2	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0004307	HP:0001696	Situs inversus totalis	2	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30	.
HP:0004307	HP:0001696	Situs inversus totalis	2	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0004307	HP:0001696	Situs inversus totalis	2	ODAD4 CL E G H	83538	25280	OMIM:617092	Ciliary dyskinesia, primary, 35	HP:0040283 - Occasional
HP:0004307	HP:0001696	Situs inversus totalis	2	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0004307	HP:0001696	Situs inversus totalis	2	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	201
HP:0004307	HP:0001696	Situs inversus totalis	2	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent	41
HP:0004307	HP:0001696	Situs inversus totalis	2	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	4
HP:0004307	HP:0001696	Situs inversus totalis	2	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040283 - Occasional	77
HP:0004307	HP:0001696	Situs inversus totalis	2	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0004307	HP:0001696	Situs inversus totalis	2	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	2
HP:0004307	HP:0001696	Situs inversus totalis	2	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	2
HP:0004307	HP:0001696	Situs inversus totalis	2	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent	4
HP:0004307	HP:0001696	Situs inversus totalis	2	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	200
HP:0004307	HP:0001696	Situs inversus totalis	2	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	109
HP:0004307	HP:0001696	Situs inversus totalis	2	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	167
HP:0004307	HP:0001696	Situs inversus totalis	2	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	31
HP:0004307	HP:0001696	Situs inversus totalis	2	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	5
HP:0004307	HP:0001696	Situs inversus totalis	2	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	58
HP:0004307	HP:0001696	Situs inversus totalis	2	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	20
HP:0004307	HP:0001696	Situs inversus totalis	2	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome	HP:0040283 - Occasional	55
HP:0004307	HP:0001696	Situs inversus totalis	2	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0004307	HP:0001696	Situs inversus totalis	2	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28	.	45
HP:0004307	HP:0001696	Situs inversus totalis	2	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	45
HP:0004307	HP:0001696	Situs inversus totalis	2	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	15
HP:0004307	HP:0001696	Situs inversus totalis	2	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	3
HP:0004307	HP:0001696	Situs inversus totalis	2	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	124
HP:0004307	HP:0001696	Situs inversus totalis	2	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	45
HP:0004307	HP:0001696	Situs inversus totalis	2	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	45
HP:0004307	HP:0001696	Situs inversus totalis	2	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	76
HP:0004307	HP:0001696	Situs inversus totalis	2	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	76
HP:0004307	HP:0001696	Situs inversus totalis	2	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	31
HP:0004307	HP:0001696	Situs inversus totalis	2	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	4
HP:0004307	HP:0001696	Situs inversus totalis	2	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	45
HP:0004307	HP:0001696	Situs inversus totalis	2	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0004307	HP:0001696	Situs inversus totalis	2	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	33
HP:0004307	HP:0001696	Situs inversus totalis	2	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	82
HP:0004307	HP:0001696	Situs inversus totalis	2	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	82
HP:0004307	HP:0001696	Situs inversus totalis	2	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	166
HP:0004307	HP:0001696	Situs inversus totalis	2	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	166
HP:0004307	HP:0001696	Situs inversus totalis	2	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0004307	HP:0001696	Situs inversus totalis	2	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare	140
HP:0004307	HP:0001696	Situs inversus totalis	2	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0004307	HP:0001696	Situs inversus totalis	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0004307	HP:0001696	Situs inversus totalis	2	TTC8 CL E G H	123016	20087	OMIM:615985	Bardet-Biedl syndrome 8	HP:0040283 - Occasional	41
HP:0004307	HP:0001696	Situs inversus totalis	2	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	2
HP:0004307	HP:0001696	Situs inversus totalis	2	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0004307	HP:0001696	Situs inversus totalis	2	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome	HP:0040283 - Occasional	177
HP:0004307	HP:0001696	Situs inversus totalis	2	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22	.	20
HP:0004307	HP:0001696	Situs inversus totalis	2	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional	20
HP:0004307	HP:0001696	Situs inversus totalis	2	ZNF423 CL E G H	23090	16762	OMIM:614844	Nephronophthisis 14	HP:0040283 - Occasional	49