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:
Congenital malformation of the great arteries (HP:0011603)

Parent Node:
Congenital malformation of the right heart (HP:0011723)

Parent Node:
Conotruncal defect (HP:0001710)

..Starting node
..Double outlet right ventricle (HP:0001719)

Term ID:

1719

Name:

Double outlet right ventricle

Synonym:

DORV; Double-outlet right ventricle

Definition:

Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle.

Comments:

Reference:

HP:0001719

Genes and Diseases:

Child Nodes:

........

Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis (HP:0011651)

........

Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis (HP:0011652)

........

Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis (HP:0011653)

........

Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis (HP:0011654)

........

Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis (HP:0011655)

........

Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis (HP:0011656)

........

Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis (HP:0011657)

........

Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis (HP:0011658)

Sister Nodes:

Tetralogy of Fallot (HP:0001636)

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:0001719	HP:0001719	Double outlet right ventricle	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional	5
HP:0001719	HP:0001719	Double outlet right ventricle	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0001719	HP:0001719	Double outlet right ventricle	0	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	36
HP:0001719	HP:0001719	Double outlet right ventricle	0	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	126
HP:0001719	HP:0001719	Double outlet right ventricle	0	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	182
HP:0001719	HP:0001719	Double outlet right ventricle	0	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	23
HP:0001719	HP:0001719	Double outlet right ventricle	0	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	23
HP:0001719	HP:0001719	Double outlet right ventricle	0	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001719	HP:0001719	Double outlet right ventricle	0	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001719	HP:0001719	Double outlet right ventricle	0	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001719	HP:0001719	Double outlet right ventricle	0	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal		17
HP:0001719	HP:0001719	Double outlet right ventricle	0	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal	.	13
HP:0001719	HP:0001719	Double outlet right ventricle	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0001719	HP:0001719	Double outlet right ventricle	0	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001719	HP:0001719	Double outlet right ventricle	0	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	116
HP:0001719	HP:0001719	Double outlet right ventricle	0	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001719	HP:0001719	Double outlet right ventricle	0	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	78
HP:0001719	HP:0001719	Double outlet right ventricle	0	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	63
HP:0001719	HP:0001719	Double outlet right ventricle	0	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	27
HP:0001719	HP:0001719	Double outlet right ventricle	0	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	62
HP:0001719	HP:0001719	Double outlet right ventricle	0	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001719	HP:0001719	Double outlet right ventricle	0	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	21
HP:0001719	HP:0001719	Double outlet right ventricle	0	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	542
HP:0001719	HP:0001719	Double outlet right ventricle	0	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	527
HP:0001719	HP:0001719	Double outlet right ventricle	0	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	18
HP:0001719	HP:0001719	Double outlet right ventricle	0	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	73
HP:0001719	HP:0001719	Double outlet right ventricle	0	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	104
HP:0001719	HP:0001719	Double outlet right ventricle	0	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	2
HP:0001719	HP:0001719	Double outlet right ventricle	0	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	167
HP:0001719	HP:0001719	Double outlet right ventricle	0	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	44
HP:0001719	HP:0001719	Double outlet right ventricle	0	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040284 - Very rare	65
HP:0001719	HP:0001719	Double outlet right ventricle	0	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001719	HP:0001719	Double outlet right ventricle	0	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	1
HP:0001719	HP:0001719	Double outlet right ventricle	0	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	9
HP:0001719	HP:0001719	Double outlet right ventricle	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0001719	HP:0001719	Double outlet right ventricle	0	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5	.	10
HP:0001719	HP:0001719	Double outlet right ventricle	0	GATA6 CL E G H	2627	4174	OMIM:217095	Conotruncal heart malformations	.	37
HP:0001719	HP:0001719	Double outlet right ventricle	0	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6	.	28
HP:0001719	HP:0001719	Double outlet right ventricle	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001719	HP:0001719	Double outlet right ventricle	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis		4
HP:0001719	HP:0001719	Double outlet right ventricle	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis		2
HP:0001719	HP:0001719	Double outlet right ventricle	0	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	21
HP:0001719	HP:0001719	Double outlet right ventricle	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001719	HP:0001719	Double outlet right ventricle	0	LRRC56 CL E G H	115399	25430	OMIM:618254	CILIARY DYSKINESIA, PRIMARY, 39; CILD39
HP:0001719	HP:0001719	Double outlet right ventricle	0	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001719	HP:0001719	Double outlet right ventricle	0	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	13
HP:0001719	HP:0001719	Double outlet right ventricle	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q		3
HP:0001719	HP:0001719	Double outlet right ventricle	0	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional	2
HP:0001719	HP:0001719	Double outlet right ventricle	0	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional	64
HP:0001719	HP:0001719	Double outlet right ventricle	0	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0001719	HP:0001719	Double outlet right ventricle	0	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001719	HP:0001719	Double outlet right ventricle	0	NKX2-5 CL E G H	1482	2488	OMIM:217095	Conotruncal heart malformations	.	90
HP:0001719	HP:0001719	Double outlet right ventricle	0	NKX2-6 CL E G H	137814	32940	OMIM:217095	Conotruncal heart malformations	.	3
HP:0001719	HP:0001719	Double outlet right ventricle	0	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	50
HP:0001719	HP:0001719	Double outlet right ventricle	0	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0001719	HP:0001719	Double outlet right ventricle	0	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1	HP:0040284 - Very rare	452
HP:0001719	HP:0001719	Double outlet right ventricle	0	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001719	HP:0001719	Double outlet right ventricle	0	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001719	HP:0001719	Double outlet right ventricle	0	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001719	HP:0001719	Double outlet right ventricle	0	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001719	HP:0001719	Double outlet right ventricle	0	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	201
HP:0001719	HP:0001719	Double outlet right ventricle	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001719	HP:0001719	Double outlet right ventricle	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis		3
HP:0001719	HP:0001719	Double outlet right ventricle	0	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria	HP:0040283 - Occasional	641
HP:0001719	HP:0001719	Double outlet right ventricle	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.	62
HP:0001719	HP:0001719	Double outlet right ventricle	0	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal	.	3
HP:0001719	HP:0001719	Double outlet right ventricle	0	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0001719	HP:0001719	Double outlet right ventricle	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis		3
HP:0001719	HP:0001719	Double outlet right ventricle	0	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040283 - Occasional	150
HP:0001719	HP:0001719	Double outlet right ventricle	0	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	200
HP:0001719	HP:0001719	Double outlet right ventricle	0	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	31
HP:0001719	HP:0001719	Double outlet right ventricle	0	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	5
HP:0001719	HP:0001719	Double outlet right ventricle	0	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	58
HP:0001719	HP:0001719	Double outlet right ventricle	0	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	20
HP:0001719	HP:0001719	Double outlet right ventricle	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0001719	HP:0001719	Double outlet right ventricle	0	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8		7
HP:0001719	HP:0001719	Double outlet right ventricle	0	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	45
HP:0001719	HP:0001719	Double outlet right ventricle	0	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	15
HP:0001719	HP:0001719	Double outlet right ventricle	0	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0001719	HP:0001719	Double outlet right ventricle	0	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	3
HP:0001719	HP:0001719	Double outlet right ventricle	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional	271
HP:0001719	HP:0001719	Double outlet right ventricle	0	TBX1 CL E G H	6899	11592	OMIM:217095	Conotruncal heart malformations	.	32
HP:0001719	HP:0001719	Double outlet right ventricle	0	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	.
HP:0001719	HP:0001719	Double outlet right ventricle	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.	1
HP:0001719	HP:0001719	Double outlet right ventricle	0	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay	.
HP:0001719	HP:0001719	Double outlet right ventricle	0	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001719	HP:0001719	Double outlet right ventricle	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional	7
HP:0001719	HP:0001719	Double outlet right ventricle	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.	83
HP:0001719	HP:0001719	Double outlet right ventricle	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0001719	HP:0001719	Double outlet right ventricle	0	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	20
HP:0001719	HP:0011657	Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis	1	CL E G H
HP:0001719	HP:0011656	Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis	1	CL E G H
HP:0001719	HP:0011655	Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis	1	CL E G H
HP:0001719	HP:0011654	Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis	1	CL E G H
HP:0001719	HP:0011653	Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis	1	CL E G H
HP:0001719	HP:0011652	Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis	1	CL E G H
HP:0001719	HP:0011658	Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis	1	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	4
HP:0001719	HP:0011658	Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	2
HP:0001719	HP:0011651	Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040283 - Occasional	3
HP:0001719	HP:0011658	Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis	1	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0001719	HP:0011658	Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis	1	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3

Genes (89) :ATP6V1B2 BCOR CCDC103 CCDC39 CCDC40 CCDC65 CCNO CFAP221 CFAP298 CFAP300 CFAP53 CFC1 CHD7 CIROP DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 EIF2AK3 FOXJ1 GAS2L2 GAS8 GATA1 GATA5 GATA6 GDF1 GNB2 HLA-B HLA-DRB1 HYDIN IPO8 LRRC56 MCIDAS MCTP2 MMP14 MMP2 NADSYN1 NEK10 NKX2-5 NKX2-6 NME8 NODAL NOTCH1 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 OTUD5 P4HA2 PAH PEX19 PKD1L1 PLCH1 PTPN22 RAI1 RPGR RSPH1 RSPH3 RSPH4A RSPH9 SH3PXD2B SMAD2 SPAG1 SPEF2 STAG2 STK36 TBC1D24 TBX1 TBX2 TMEM94 TRAF7 TTC12 UBE2A WASHC5 ZIC3 ZMYND10

Diseases (36) :ORPHA:79500 OMIM:300166 ORPHA:244 OMIM:614779 OMIM:605376 OMIM:214800 OMIM:619702 ORPHA:1667 OMIM:190685 OMIM:617912 OMIM:217095 OMIM:613854 OMIM:619503 ORPHA:397 OMIM:619472 OMIM:618254 ORPHA:1596 ORPHA:371428 OMIM:618845 OMIM:270100 OMIM:109730 OMIM:301056 ORPHA:2209 OMIM:614886 OMIM:617205 OMIM:619895 ORPHA:477817 OMIM:249420 OMIM:619657 OMIM:301043 OMIM:618223 OMIM:618316 OMIM:618164 ORPHA:163956 OMIM:220210 OMIM:306955

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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