Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID		3
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia		36
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia		126
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia		182
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia		23
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia		23
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal		17
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal		13
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome		1
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia		116
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia		78
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia		63
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia		27
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia		62
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia		21
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia		542
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia		527
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia		18
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia		73
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia		104
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia		2
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia		167
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia		44
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome		65
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia		1
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia		9
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5		10
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	GATA6 CL E G H	2627	4174	OMIM:217095	Conotruncal heart malformations		37
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6		28
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis		4
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis		2
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia		21
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	LRRC56 CL E G H	115399	25430	OMIM:618254	CILIARY DYSKINESIA, PRIMARY, 39; CILD39
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia		13
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q		3
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum		2
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum		64
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	NKX2-5 CL E G H	1482	2488	OMIM:217095	Conotruncal heart malformations		90
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	NKX2-6 CL E G H	137814	32940	OMIM:217095	Conotruncal heart malformations		3
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia		50
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1		452
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia		201
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis		3
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria		641
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)		62
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal		3
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis		3
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome		150
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia		200
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia		31
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia		5
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia		58
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia		20
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8		7
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia		45
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia		15
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia		3
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome		271
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	TBX1 CL E G H	6899	11592	OMIM:217095	Conotruncal heart malformations		32
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1		83
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0011723	HP:0011723	Congenital malformation of the right heart	0	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia		20
HP:0011723	HP:0011724	Uhl's anomaly	1	CL E G H
HP:0011723	HP:0010954	Hypoplastic right heart	1	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID		3
HP:0011723	HP:0001719	Double outlet right ventricle	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional	5
HP:0011723	HP:0001719	Double outlet right ventricle	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0011723	HP:0001719	Double outlet right ventricle	1	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	36
HP:0011723	HP:0001719	Double outlet right ventricle	1	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	126
HP:0011723	HP:0001719	Double outlet right ventricle	1	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	182
HP:0011723	HP:0001719	Double outlet right ventricle	1	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	23
HP:0011723	HP:0001719	Double outlet right ventricle	1	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	23
HP:0011723	HP:0001719	Double outlet right ventricle	1	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011723	HP:0001719	Double outlet right ventricle	1	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011723	HP:0001719	Double outlet right ventricle	1	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011723	HP:0001719	Double outlet right ventricle	1	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal		17
HP:0011723	HP:0001719	Double outlet right ventricle	1	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal	.	13
HP:0011723	HP:0001719	Double outlet right ventricle	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0011723	HP:0001719	Double outlet right ventricle	1	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0011723	HP:0010954	Hypoplastic right heart	1	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome		1
HP:0011723	HP:0001719	Double outlet right ventricle	1	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	116
HP:0011723	HP:0001719	Double outlet right ventricle	1	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011723	HP:0001719	Double outlet right ventricle	1	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	78
HP:0011723	HP:0001719	Double outlet right ventricle	1	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	63
HP:0011723	HP:0001719	Double outlet right ventricle	1	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	27
HP:0011723	HP:0001719	Double outlet right ventricle	1	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	62
HP:0011723	HP:0001719	Double outlet right ventricle	1	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011723	HP:0001719	Double outlet right ventricle	1	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	21
HP:0011723	HP:0001719	Double outlet right ventricle	1	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	542
HP:0011723	HP:0001719	Double outlet right ventricle	1	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	527
HP:0011723	HP:0001719	Double outlet right ventricle	1	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	18
HP:0011723	HP:0001719	Double outlet right ventricle	1	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	73
HP:0011723	HP:0001719	Double outlet right ventricle	1	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	104
HP:0011723	HP:0001719	Double outlet right ventricle	1	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	2
HP:0011723	HP:0001719	Double outlet right ventricle	1	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	167
HP:0011723	HP:0001719	Double outlet right ventricle	1	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	44
HP:0011723	HP:0010954	Hypoplastic right heart	1	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0011723	HP:0001719	Double outlet right ventricle	1	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040284 - Very rare	65
HP:0011723	HP:0001719	Double outlet right ventricle	1	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011723	HP:0001719	Double outlet right ventricle	1	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	1
HP:0011723	HP:0001719	Double outlet right ventricle	1	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	9
HP:0011723	HP:0001719	Double outlet right ventricle	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0011723	HP:0001719	Double outlet right ventricle	1	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5	.	10
HP:0011723	HP:0001719	Double outlet right ventricle	1	GATA6 CL E G H	2627	4174	OMIM:217095	Conotruncal heart malformations	.	37
HP:0011723	HP:0001719	Double outlet right ventricle	1	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6	.	28
HP:0011723	HP:0001719	Double outlet right ventricle	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011723	HP:0001719	Double outlet right ventricle	1	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis		4
HP:0011723	HP:0001719	Double outlet right ventricle	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis		2
HP:0011723	HP:0001719	Double outlet right ventricle	1	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	21
HP:0011723	HP:0001719	Double outlet right ventricle	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0011723	HP:0001719	Double outlet right ventricle	1	LRRC56 CL E G H	115399	25430	OMIM:618254	CILIARY DYSKINESIA, PRIMARY, 39; CILD39
HP:0011723	HP:0001719	Double outlet right ventricle	1	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011723	HP:0001719	Double outlet right ventricle	1	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	13
HP:0011723	HP:0001719	Double outlet right ventricle	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q		3
HP:0011723	HP:0001719	Double outlet right ventricle	1	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional	2
HP:0011723	HP:0001719	Double outlet right ventricle	1	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional	64
HP:0011723	HP:0001719	Double outlet right ventricle	1	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0011723	HP:0001719	Double outlet right ventricle	1	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011723	HP:0001719	Double outlet right ventricle	1	NKX2-5 CL E G H	1482	2488	OMIM:217095	Conotruncal heart malformations	.	90
HP:0011723	HP:0001719	Double outlet right ventricle	1	NKX2-6 CL E G H	137814	32940	OMIM:217095	Conotruncal heart malformations	.	3
HP:0011723	HP:0001719	Double outlet right ventricle	1	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	50
HP:0011723	HP:0001719	Double outlet right ventricle	1	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0011723	HP:0001719	Double outlet right ventricle	1	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1	HP:0040284 - Very rare	452
HP:0011723	HP:0001719	Double outlet right ventricle	1	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011723	HP:0001719	Double outlet right ventricle	1	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011723	HP:0001719	Double outlet right ventricle	1	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011723	HP:0001719	Double outlet right ventricle	1	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011723	HP:0001719	Double outlet right ventricle	1	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	201
HP:0011723	HP:0001719	Double outlet right ventricle	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0011723	HP:0001719	Double outlet right ventricle	1	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis		3
HP:0011723	HP:0001719	Double outlet right ventricle	1	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria	HP:0040283 - Occasional	641
HP:0011723	HP:0001719	Double outlet right ventricle	1	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.	62
HP:0011723	HP:0001719	Double outlet right ventricle	1	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal	.	3
HP:0011723	HP:0001719	Double outlet right ventricle	1	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0011723	HP:0001719	Double outlet right ventricle	1	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis		3
HP:0011723	HP:0001719	Double outlet right ventricle	1	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040283 - Occasional	150
HP:0011723	HP:0001719	Double outlet right ventricle	1	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	200
HP:0011723	HP:0001719	Double outlet right ventricle	1	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	31
HP:0011723	HP:0001719	Double outlet right ventricle	1	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	5
HP:0011723	HP:0001719	Double outlet right ventricle	1	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	58
HP:0011723	HP:0001719	Double outlet right ventricle	1	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	20
HP:0011723	HP:0001719	Double outlet right ventricle	1	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0011723	HP:0001719	Double outlet right ventricle	1	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8		7
HP:0011723	HP:0001719	Double outlet right ventricle	1	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	45
HP:0011723	HP:0001719	Double outlet right ventricle	1	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	15
HP:0011723	HP:0001719	Double outlet right ventricle	1	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0011723	HP:0001719	Double outlet right ventricle	1	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	3
HP:0011723	HP:0001719	Double outlet right ventricle	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional	271
HP:0011723	HP:0001719	Double outlet right ventricle	1	TBX1 CL E G H	6899	11592	OMIM:217095	Conotruncal heart malformations	.	32
HP:0011723	HP:0001719	Double outlet right ventricle	1	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	.
HP:0011723	HP:0001719	Double outlet right ventricle	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.	1
HP:0011723	HP:0001719	Double outlet right ventricle	1	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay	.
HP:0011723	HP:0001719	Double outlet right ventricle	1	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0011723	HP:0001719	Double outlet right ventricle	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional	7
HP:0011723	HP:0001719	Double outlet right ventricle	1	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.	83
HP:0011723	HP:0001719	Double outlet right ventricle	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0011723	HP:0001719	Double outlet right ventricle	1	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	20
HP:0011723	HP:0011655	Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis	2	CL E G H
HP:0011723	HP:0011654	Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis	2	CL E G H
HP:0011723	HP:0011653	Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis	2	CL E G H
HP:0011723	HP:0011652	Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis	2	CL E G H
HP:0011723	HP:0011657	Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis	2	CL E G H
HP:0011723	HP:0011656	Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis	2	CL E G H
HP:0011723	HP:0011658	Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis	2	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	4
HP:0011723	HP:0011658	Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	2
HP:0011723	HP:0011651	Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis	2	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040283 - Occasional	3
HP:0011723	HP:0011658	Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis	2	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0011723	HP:0011658	Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis	2	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3