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 morphology of the great vessels (HP:0030962)

Parent Node:
Abnormal ventriculoarterial connection (HP:0011563)

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

..Starting node
..Transposition of the great arteries (HP:0001669)

Term ID:

1669

Name:

Transposition of the great arteries

Synonym:

Transposition of great vessels

Definition:

A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle.

Comments:

Reference:

HP:0001669

Genes and Diseases:

Child Nodes:

........

Dextrotransposition of the great arteries (HP:0031348)

........

Levotransposition of the great arteries (HP:0031349)

Sister Nodes:

Aortopulmonary window (HP:0011604)

Congenitally corrected transposition of the great arteries (HP:0011540)

Conotruncal defect (HP:0001710)

Dilatation of the ductus arteriosus (HP:0030745)

Patent ductus arteriosus (HP:0001643)

Truncus arteriosus (HP:0001660)

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:0001669	HP:0001669	Transposition of the great arteries	0	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal		161
HP:0001669	HP:0001669	Transposition of the great arteries	0	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0001669	HP:0001669	Transposition of the great arteries	0	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	.	13
HP:0001669	HP:0001669	Transposition of the great arteries	0	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	36
HP:0001669	HP:0001669	Transposition of the great arteries	0	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	126
HP:0001669	HP:0001669	Transposition of the great arteries	0	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	182
HP:0001669	HP:0001669	Transposition of the great arteries	0	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	23
HP:0001669	HP:0001669	Transposition of the great arteries	0	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	23
HP:0001669	HP:0001669	Transposition of the great arteries	0	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001669	HP:0001669	Transposition of the great arteries	0	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001669	HP:0001669	Transposition of the great arteries	0	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001669	HP:0001669	Transposition of the great arteries	0	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal	.	17
HP:0001669	HP:0001669	Transposition of the great arteries	0	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal	.	13
HP:0001669	HP:0001669	Transposition of the great arteries	0	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001669	HP:0001669	Transposition of the great arteries	0	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	116
HP:0001669	HP:0001669	Transposition of the great arteries	0	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001669	HP:0001669	Transposition of the great arteries	0	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	78
HP:0001669	HP:0001669	Transposition of the great arteries	0	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	63
HP:0001669	HP:0001669	Transposition of the great arteries	0	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	27
HP:0001669	HP:0001669	Transposition of the great arteries	0	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	62
HP:0001669	HP:0001669	Transposition of the great arteries	0	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001669	HP:0001669	Transposition of the great arteries	0	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	21
HP:0001669	HP:0001669	Transposition of the great arteries	0	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	542
HP:0001669	HP:0001669	Transposition of the great arteries	0	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	527
HP:0001669	HP:0001669	Transposition of the great arteries	0	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	18
HP:0001669	HP:0001669	Transposition of the great arteries	0	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	73
HP:0001669	HP:0001669	Transposition of the great arteries	0	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	104
HP:0001669	HP:0001669	Transposition of the great arteries	0	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	2
HP:0001669	HP:0001669	Transposition of the great arteries	0	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	167
HP:0001669	HP:0001669	Transposition of the great arteries	0	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	44
HP:0001669	HP:0001669	Transposition of the great arteries	0	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked	.	58
HP:0001669	HP:0001669	Transposition of the great arteries	0	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.	184
HP:0001669	HP:0001669	Transposition of the great arteries	0	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001669	HP:0001669	Transposition of the great arteries	0	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	1
HP:0001669	HP:0001669	Transposition of the great arteries	0	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	9
HP:0001669	HP:0001669	Transposition of the great arteries	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040283 - Occasional	87
HP:0001669	HP:0001669	Transposition of the great arteries	0	GATA6 CL E G H	2627	4174	OMIM:217095	Conotruncal heart malformations	.	37
HP:0001669	HP:0001669	Transposition of the great arteries	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects	.	37
HP:0001669	HP:0001669	Transposition of the great arteries	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040283 - Occasional	37
HP:0001669	HP:0001669	Transposition of the great arteries	0	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6		28
HP:0001669	HP:0001669	Transposition of the great arteries	0	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)		28
HP:0001669	HP:0001669	Transposition of the great arteries	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.	39
HP:0001669	HP:0001669	Transposition of the great arteries	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.	34
HP:0001669	HP:0001669	Transposition of the great arteries	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001669	HP:0001669	Transposition of the great arteries	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0001669	HP:0001669	Transposition of the great arteries	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001669	HP:0001669	Transposition of the great arteries	0	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	21
HP:0001669	HP:0001669	Transposition of the great arteries	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional	645
HP:0001669	HP:0001669	Transposition of the great arteries	0	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001669	HP:0001669	Transposition of the great arteries	0	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	13
HP:0001669	HP:0001669	Transposition of the great arteries	0	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects	HP:0040283 - Occasional	74
HP:0001669	HP:0001669	Transposition of the great arteries	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0001669	HP:0001669	Transposition of the great arteries	0	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal		3
HP:0001669	HP:0001669	Transposition of the great arteries	0	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001669	HP:0001669	Transposition of the great arteries	0	NKX2-5 CL E G H	1482	2488	OMIM:217095	Conotruncal heart malformations	.	90
HP:0001669	HP:0001669	Transposition of the great arteries	0	NKX2-6 CL E G H	137814	32940	OMIM:217095	Conotruncal heart malformations	.	3
HP:0001669	HP:0001669	Transposition of the great arteries	0	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus	HP:0040284 - Very rare	3
HP:0001669	HP:0001669	Transposition of the great arteries	0	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	50
HP:0001669	HP:0001669	Transposition of the great arteries	0	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0001669	HP:0001669	Transposition of the great arteries	0	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001669	HP:0001669	Transposition of the great arteries	0	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001669	HP:0001669	Transposition of the great arteries	0	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001669	HP:0001669	Transposition of the great arteries	0	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001669	HP:0001669	Transposition of the great arteries	0	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	201
HP:0001669	HP:0001669	Transposition of the great arteries	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0001669	HP:0001669	Transposition of the great arteries	0	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040282 - Frequent	36
HP:0001669	HP:0001669	Transposition of the great arteries	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.	36
HP:0001669	HP:0001669	Transposition of the great arteries	0	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus	HP:0040284 - Very rare
HP:0001669	HP:0001669	Transposition of the great arteries	0	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0001669	HP:0001669	Transposition of the great arteries	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0001669	HP:0001669	Transposition of the great arteries	0	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	200
HP:0001669	HP:0001669	Transposition of the great arteries	0	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	31
HP:0001669	HP:0001669	Transposition of the great arteries	0	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	5
HP:0001669	HP:0001669	Transposition of the great arteries	0	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	58
HP:0001669	HP:0001669	Transposition of the great arteries	0	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	20
HP:0001669	HP:0001669	Transposition of the great arteries	0	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8		7
HP:0001669	HP:0001669	Transposition of the great arteries	0	SMG9 CL E G H	56006	25763	OMIM:619995			2
HP:0001669	HP:0001669	Transposition of the great arteries	0	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	45
HP:0001669	HP:0001669	Transposition of the great arteries	0	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	15
HP:0001669	HP:0001669	Transposition of the great arteries	0	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	3
HP:0001669	HP:0001669	Transposition of the great arteries	0	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040283 - Occasional	32
HP:0001669	HP:0001669	Transposition of the great arteries	0	TBX1 CL E G H	6899	11592	OMIM:217095	Conotruncal heart malformations	.	32
HP:0001669	HP:0001669	Transposition of the great arteries	0	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001669	HP:0001669	Transposition of the great arteries	0	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0001669	HP:0001669	Transposition of the great arteries	0	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome	HP:0040283 - Occasional	177
HP:0001669	HP:0001669	Transposition of the great arteries	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0001669	HP:0001669	Transposition of the great arteries	0	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked	.	39
HP:0001669	HP:0001669	Transposition of the great arteries	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional	83
HP:0001669	HP:0001669	Transposition of the great arteries	0	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	20
HP:0001669	HP:0001669	Transposition of the great arteries	0	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0001669	HP:0031349	Levotransposition of the great arteries	1	CL E G H
HP:0001669	HP:0031348	Dextrotransposition of the great arteries	1	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal		161
HP:0001669	HP:0031348	Dextrotransposition of the great arteries	1	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001669	HP:0031348	Dextrotransposition of the great arteries	1	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0001669	HP:0031348	Dextrotransposition of the great arteries	1	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8		7
HP:0001669	HP:0031348	Dextrotransposition of the great arteries	1	SMG9 CL E G H	56006	25763	OMIM:619995			2
HP:0001669	HP:0031348	Dextrotransposition of the great arteries	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0001669	HP:0031348	Dextrotransposition of the great arteries	1	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4

Genes (82) :ACVR2B ATP2B1 BMP2 CCDC103 CCDC39 CCDC40 CCDC65 CCNO CFAP221 CFAP298 CFAP300 CFAP53 CFC1 CIROP DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 FANCB FKTN FOXJ1 GAS2L2 GAS8 GATA4 GATA6 GDF1 GJA5 GJA8 GNB2 GPC3 GPC4 HYDIN LMNA LRRC56 MCIDAS MED13L MEGF8 MMP21 NEK10 NKX2-5 NKX2-6 NME8 NODAL ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PHGDH PIGL PLXND1 QRICH1 RAB23 RPGR RSPH1 RSPH3 RSPH4A RSPH9 SMAD2 SMG9 SPAG1 SPEF2 STK36 TBX1 TTC12 WT1 ZIC3 ZMPSTE24 ZMYND10 ZNF462

Diseases (36) :OMIM:613751 OMIM:619910 OMIM:617877 ORPHA:244 OMIM:614779 OMIM:605376 OMIM:619702 OMIM:314390 OMIM:253800 ORPHA:251071 OMIM:217095 OMIM:600001 ORPHA:2255 OMIM:613854 OMIM:208530 OMIM:612474 OMIM:619503 OMIM:312870 ORPHA:1662 OMIM:616789 OMIM:614976 OMIM:616749 ORPHA:3384 OMIM:270100 OMIM:256520 ORPHA:3474 OMIM:280000 OMIM:617982 OMIM:201000 OMIM:619657 OMIM:619995 ORPHA:1727 OMIM:608978 ORPHA:3097 OMIM:306955 OMIM:618619

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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