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:
Abnormality of the pulmonary vasculature (HP:0004930)

Parent Node:
Abnormal morphology of the great vessels (HP:0030962)

Parent Node:
Abnormality of the pulmonary veins (HP:0011718)

..Starting node
..Abnormal pulmonary vein morphology (HP:0030968)

Term ID:

30968

Name:

Abnormal pulmonary vein morphology

Synonym:

Definition:

An abnormality of the structure of the pulmonary veins.

Comments:

Reference:

HP:0030968

Genes and Diseases:

Child Nodes:

........

Hypoplastic pulmonary veins (HP:0005304)

........

Pulmonary venous occlusion (HP:0006518)

........

Anomalous pulmonary venous return (HP:0010772)

................... HP:0005160 Total anomalous pulmonary venous return
................... HP:0010773 Partial anomalous pulmonary venous return

Sister Nodes:

Abnormal pulmonary vein physiology (HP:0030969)

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:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal		161
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome		6
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040284 - Very rare	36
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	BMPR2 CL E G H	659	1078	OMIM:265450	PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1		525
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia		36
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia		126
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia		182
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia		23
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia		23
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal		17
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	CITED2 CL E G H	10370	1987	OMIM:614433	ATRIAL SEPTAL DEFECT 8; ASD8		5
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type		5
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII		124
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis		72
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS		72
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia		116
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia		78
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia		63
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia		27
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia		62
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia		21
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia		542
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia		527
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia		18
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia		73
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia		104
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia		2
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia		167
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia		44
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis	HP:0040282 - Frequent	40
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia		1
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia		9
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6		28
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)		28
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		10
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia		21
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		13
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia		13
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal		3
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome		2
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome		117
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome		1
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia		50
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia		201
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		3
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia		200
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	RPS15A CL E G H	6210	10389	OMIM:618313	DIAMOND-BLACKFAN ANEMIA 20; DBA20
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia		31
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia		5
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia		58
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia		20
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1		51
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8		7
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia		45
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia		15
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia		3
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome		123
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome		2
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome		14
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome		177
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0030968	HP:0030968	Abnormal pulmonary vein morphology	0	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia		20
HP:0030968	HP:0034389	Pulmonary vein varix	1	CL E G H
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal		161
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome		6
HP:0030968	HP:0006518	Pulmonary venous occlusion	1	BMPR2 CL E G H	659	1078	OMIM:265450	PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1		525
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	36
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	126
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	182
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	23
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	23
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal		17
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	CITED2 CL E G H	10370	1987	OMIM:614433	ATRIAL SEPTAL DEFECT 8; ASD8		5
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type	HP:0040282 - Frequent	5
HP:0030968	HP:0005304	Hypoplastic pulmonary veins	1	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII	.	124
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040283 - Occasional	72
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS		72
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	116
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	78
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	63
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	27
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	62
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	21
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	542
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	527
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	18
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	73
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	104
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	2
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	167
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	44
HP:0030968	HP:0006518	Pulmonary venous occlusion	1	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0030968	HP:0033186	Misalignment of the pulmonary veins	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	1
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	9
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6		28
HP:0030968	HP:0005304	Hypoplastic pulmonary veins	1	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6	.	28
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)		28
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	10
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	21
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	13
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	13
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal		3
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome		2
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome		117
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome		1
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	50
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	201
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	3
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	200
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	RPS15A CL E G H	6210	10389	OMIM:618313	DIAMOND-BLACKFAN ANEMIA 20; DBA20
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	31
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	5
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	58
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	20
HP:0030968	HP:0005304	Hypoplastic pulmonary veins	1	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2	.
HP:0030968	HP:0033186	Misalignment of the pulmonary veins	1	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1		51
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8		7
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	45
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	15
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	3
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome	HP:0040283 - Occasional	123
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome		2
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome		14
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome	HP:0040283 - Occasional	177
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0030968	HP:0010772	Anomalous pulmonary venous return	1	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	20
HP:0030968	HP:0005160	Total anomalous pulmonary venous return	2	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal		161
HP:0030968	HP:0005160	Total anomalous pulmonary venous return	2	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional	6
HP:0030968	HP:0005160	Total anomalous pulmonary venous return	2	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal		17
HP:0030968	HP:0010773	Partial anomalous pulmonary venous return	2	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0030968	HP:0005160	Total anomalous pulmonary venous return	2	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS		72
HP:0030968	HP:0010773	Partial anomalous pulmonary venous return	2	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0030968	HP:0010773	Partial anomalous pulmonary venous return	2	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0030968	HP:0005160	Total anomalous pulmonary venous return	2	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6	.	28
HP:0030968	HP:0005160	Total anomalous pulmonary venous return	2	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)		28
HP:0030968	HP:0005160	Total anomalous pulmonary venous return	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0030968	HP:0005160	Total anomalous pulmonary venous return	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0030968	HP:0010773	Partial anomalous pulmonary venous return	2	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0030968	HP:0005160	Total anomalous pulmonary venous return	2	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal	.	3
HP:0030968	HP:0010773	Partial anomalous pulmonary venous return	2	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome		2
HP:0030968	HP:0005160	Total anomalous pulmonary venous return	2	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040284 - Very rare	117
HP:0030968	HP:0005160	Total anomalous pulmonary venous return	2	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040284 - Very rare	1
HP:0030968	HP:0010773	Partial anomalous pulmonary venous return	2	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0030968	HP:0005160	Total anomalous pulmonary venous return	2	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0030968	HP:0005160	Total anomalous pulmonary venous return	2	RPS15A CL E G H	6210	10389	OMIM:618313	DIAMOND-BLACKFAN ANEMIA 20; DBA20
HP:0030968	HP:0010773	Partial anomalous pulmonary venous return	2	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8		7
HP:0030968	HP:0010773	Partial anomalous pulmonary venous return	2	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0030968	HP:0010773	Partial anomalous pulmonary venous return	2	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome		2
HP:0030968	HP:0005160	Total anomalous pulmonary venous return	2	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040284 - Very rare	14
HP:0030968	HP:0005160	Total anomalous pulmonary venous return	2	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0030968	HP:0010773	Partial anomalous pulmonary venous return	2	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0030968	HP:0005160	Total anomalous pulmonary venous return	2	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0030968	HP:0011721	Infracardiac total anomalous pulmonary venous connection	3	CL E G H
HP:0030968	HP:0011719	Supracardiac total anomalous pulmonary venous connection	3	CL E G H
HP:0030968	HP:0011722	Mixed total anomalous pulmonary venous connection	3	CL E G H
HP:0030968	HP:0011626	Scimitar anomaly	3	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome	.	2
HP:0030968	HP:0011720	Cardiac total anomalous pulmonary venous connection	3	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0030968	HP:0011626	Scimitar anomaly	3	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177

Genes (84) :ACVR2B AFF4 B3GLCT BMPR2 CCDC103 CCDC39 CCDC40 CCDC65 CCNO CDC42 CFAP221 CFAP298 CFAP300 CFAP53 CIROP CITED2 CRTAP DHCR24 DLL3 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 EIF2AK4 FOXF1 FOXJ1 GAS2L2 GAS8 GATA1 GDF1 GPC3 GPC4 HES7 HYDIN LFNG LRRC56 MCIDAS MED12 MESP2 MMP21 MYRF NEK10 NIPA1 NIPA2 NME8 NODAL ODAD1 ODAD2 ODAD3 ODAD4 OFD1 RIPPLY2 RPGR RPS15A RSPH1 RSPH3 RSPH4A RSPH9 RSPO2 SFTPB SMAD2 SMC1A SPAG1 SPEF2 STK36 TBX5 TMEM260 TTC12 TUBG1 WT1 ZIC3 ZMYND10

Diseases (36) :OMIM:613751 OMIM:616368 ORPHA:709 OMIM:265450 ORPHA:244 ORPHA:487796 OMIM:614779 OMIM:619702 OMIM:614433 ORPHA:99105 OMIM:610682 ORPHA:35107 OMIM:602398 ORPHA:2311 ORPHA:199241 OMIM:234810 OMIM:265380 OMIM:190685 OMIM:613854 OMIM:208530 OMIM:312870 OMIM:301068 OMIM:616749 OMIM:618280 ORPHA:261183 OMIM:270100 OMIM:618313 OMIM:618021 OMIM:265120 OMIM:619657 OMIM:301044 ORPHA:392 OMIM:617478 ORPHA:3097 OMIM:608978 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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