Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal heart morphology (HP:0001627)

Parent Node:
Abnormal anatomic location of the heart (HP:0004307)

..Starting node
..Dextrocardia (HP:0001651)

Term ID:

1651

Name:

Dextrocardia

Synonym:

Heart tip and four chambers point towards right side of body; Thoracic situs inversus

Definition:

The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left.

Comments:

Reference:

HP:0001651

Genes and Diseases:

Child Nodes:

........

Situs inversus totalis (HP:0001696)

Sister Nodes:

Abnormal direction of ventricular apex (HP:0011600)

Ectopia cordis (HP:0001683)

Mesocardia (HP:0011599)

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

Genes (137) :ACVR2B AHI1 ANKS6 ARL13B ARL2BP ARL3 ARMC9 B9D1 B9D2 BCOR CBY1 CC2D2A CCDC103 CCDC39 CCDC40 CCDC65 CCNO CDH2 CEP104 CEP120 CEP290 CEP41 CFAP221 CFAP298 CFAP300 CFAP45 CFAP52 CFAP53 CFC1 CIROP COL18A1 CPLANE1 CRELD1 CSPP1 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 DYNC2LI1 EVC EVC2 FANCB FOXJ1 GAS2L2 GAS8 GATA4 GDF1 GLI1 HES7 HYDIN HYLS1 INPP5E INVS IRF6 KATNIP KIAA0586 LMBRD1 LMNA LRRC56 LZTFL1 MCIDAS MEGF8 MKS1 MMP21 MNS1 MSX1 MYRF NECTIN1 NEK10 NEK8 NME8 NODAL NPHP3 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 OTX2 PAK2 PIBF1 PIEZO2 PKD1L1 PKD2 PQBP1 PRKACA PRKACB PRRX1 RPGR RPGRIP1 RPGRIP1L RSPH1 RSPH3 RSPH4A RSPH9 SH2B1 SLC19A2 SLC38A3 SMAD2 SPAG1 SPEF2 STK36 SUFU TCTN1 TCTN2 TCTN3 TGDS TMEM107 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TOGARAM1 TP63 TTC12 TTC26 TTC8 TXNDC15 UBR1 WT1 ZIC3 ZMPSTE24 ZMYND10 ZNF423

Diseases (79) :OMIM:613751 ORPHA:475 ORPHA:220493 OMIM:615382 OMIM:615434 ORPHA:564 OMIM:300166 OMIM:614679 ORPHA:244 OMIM:613807 OMIM:613808 OMIM:618929 OMIM:615500 OMIM:618063 OMIM:619608 OMIM:619607 OMIM:614779 OMIM:605376 OMIM:619702 ORPHA:1571 OMIM:606217 OMIM:613193 OMIM:614935 OMIM:612518 OMIM:606763 OMIM:615482 OMIM:614874 OMIM:300991 OMIM:617577 OMIM:611884 OMIM:608644 OMIM:618300 OMIM:244400 OMIM:612444 OMIM:614017 ORPHA:289 OMIM:314390 OMIM:607941 OMIM:208530 OMIM:613686 OMIM:602088 ORPHA:199302 OMIM:277380 ORPHA:1662 OMIM:618254 OMIM:615994 OMIM:614976 OMIM:616749 OMIM:618948 OMIM:618280 OMIM:615415 OMIM:270100 OMIM:267010 OMIM:208540 OMIM:615067 OMIM:615451 OMIM:616037 OMIM:617092 ORPHA:990 OMIM:248700 ORPHA:2461 OMIM:617205 OMIM:613095 OMIM:309500 ORPHA:261197 OMIM:249270 OMIM:619881 OMIM:619657 OMIM:615505 OMIM:616145 OMIM:619534 OMIM:615985 ORPHA:2315 OMIM:243800 ORPHA:3097 OMIM:608978 OMIM:306955 OMIM:615444 OMIM:614844

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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