Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 anatomic location of the heart (HP:0004307)

Parent Node:
Abnormal spatial orientation of the cardiac segments (HP:0011534)

Parent Node:
Dextrocardia (HP:0001651)

..Starting node
..Situs inversus totalis (HP:0001696)

Term ID:

1696

Name:

Situs inversus totalis

Synonym:

All organs on wrong side of body; Situs inversus; situs oppositus; situs transversus

Definition:

A left-right reversal (or "mirror reflection") of the anatomical location of the major thoracic and abdominal organs.

Comments:

Reference:

HP:0001696

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

Genes (118) :AHI1 ANKS6 ARL13B ARL2BP ARL3 ARMC9 B9D1 B9D2 CBY1 CC2D2A CCDC103 CCDC39 CCDC40 CCDC65 CCNO CEP104 CEP120 CEP290 CEP41 CFAP221 CFAP298 CFAP300 CFAP45 CFAP52 CFAP53 CFC1 CIROP CPLANE1 CSPP1 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 DYNC2LI1 EVC EVC2 FOXJ1 GAS2L2 GAS8 GDF1 GLI1 HES7 HYDIN HYLS1 INPP5E INVS IRF6 KATNIP KIAA0586 LRRC56 LZTFL1 MCIDAS MEGF8 MKS1 MMP21 MNS1 MSX1 NECTIN1 NEK10 NEK8 NME8 NPHP3 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 OTX2 PIBF1 PIEZO2 PQBP1 PRKACA PRKACB PRRX1 RPGR RPGRIP1 RPGRIP1L RSPH1 RSPH3 RSPH4A RSPH9 SLC19A2 SLC38A3 SPAG1 SPEF2 STK36 SUFU TCTN1 TCTN2 TCTN3 TMEM107 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TOGARAM1 TP63 TTC12 TTC26 TTC8 TXNDC15 UBR1 WT1 ZMYND10 ZNF423

Diseases (57) :ORPHA:475 OMIM:615382 OMIM:615434 ORPHA:564 OMIM:614679 ORPHA:244 OMIM:613807 OMIM:613808 OMIM:615500 OMIM:618063 OMIM:619608 OMIM:619607 OMIM:614779 OMIM:605376 OMIM:619702 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:208530 OMIM:613686 OMIM:602088 ORPHA:199302 OMIM:615994 OMIM:614976 OMIM:616749 OMIM:618948 OMIM:615415 OMIM:267010 OMIM:208540 OMIM:615067 OMIM:615451 OMIM:616037 OMIM:617092 ORPHA:990 ORPHA:2461 OMIM:309500 OMIM:249270 OMIM:619881 OMIM:615505 OMIM:619534 OMIM:615985 OMIM:243800 ORPHA:3097 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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