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:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia		15
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome		94
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal		161
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2		178
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	ADAMTS19 CL E G H	171019	17111	OMIM:620067			1
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome		6
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome		1
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome		147
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1		147
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49		3
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome		101
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	BGN CL E G H	633	1044	OMIM:300989	Meester-Loeys syndrome		7
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1		525
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	BMPR2 CL E G H	659	1078	OMIM:265450	PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1		525
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines		276
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome		317
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia		36
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia		126
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia		182
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia		23
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome		1
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia		23
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome		7
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations		7
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal		17
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	CITED2 CL E G H	10370	1987	OMIM:614433	ATRIAL SEPTAL DEFECT 8; ASD8		5
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type		5
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis		102
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	CRELD1 CL E G H	78987	14630	OMIM:606217	Atrioventricular septal defect, susceptibility to, 2		19
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII		124
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis		72
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS		72
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome		9
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia		116
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia		78
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia		63
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia		27
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia		62
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia		21
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia		542
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia		527
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia		18
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia		73
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia		104
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia		2
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia		167
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome		18
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia		44
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	EDNRB CL E G H	1910	3180	ORPHA:895	Waardenburg syndrome type 2		55
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1		45
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB		45
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis		40
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1		172
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	ELN CL E G H	2006	3327	OMIM:185500	Supravalvular aortic stenosis		172
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome		4
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	FADD CL E G H	8772	3573	ORPHA:306550	FADD-related immunodeficiency		3
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	FADD CL E G H	8772	3573	OMIM:613759	INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS		3
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1		63
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis		172
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	FLT4 CL E G H	2324	3767	OMIM:618780	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7; CHTD7		90
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome	HP:0040283 - Occasional	20
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia		1
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia		9
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome		87
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome		37
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6		28
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)		28
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1		99
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		10
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia		21
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3		11
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	ITPR1 CL E G H	3708	6180	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome		177
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	JAG1 CL E G H	182	6188	OMIM:617992	DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE		257
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	KITLG CL E G H	4254	6343	ORPHA:895	Waardenburg syndrome type 2		9
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome		196
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		13
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome		645
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome		645
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC		92
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome		43
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia		13
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome		33
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome		33
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	MITF CL E G H	4286	7105	ORPHA:895	Waardenburg syndrome type 2		91
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal		3
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S		1269
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome		2
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome		23
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome		117
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome		1
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects		90
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	NKX2-5 CL E G H	1482	2488	OMIM:614432	Ventricular septal defect 3		90
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus		3
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia		50
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome		452
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2		138
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome		102
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia		201
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	PAX6 CL E G H	5080	8620	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome		194
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal		3
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental		4
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040283 - Occasional	20
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome		291
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines		291
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome		212
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines		212
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome		3
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome		3
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		3
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome		39
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia		200
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome		10
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome		10
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	RPS15A CL E G H	6210	10389	OMIM:618313	DIAMOND-BLACKFAN ANEMIA 20; DBA20
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome		1
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia		31
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia		5
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia		58
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia		20
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1		51
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome		178
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome		178
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8		7
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	SMAD4 CL E G H	4089	6770	OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome		504
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	SNAI2 CL E G H	6591	11094	ORPHA:895	Waardenburg syndrome type 2		19
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis		2
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome		315
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome		30
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	SOX10 CL E G H	6663	11190	ORPHA:895	Waardenburg syndrome type 2		61
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia		45
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia		15
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia		3
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9		71
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome		123
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis		82
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type		6
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome		2
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis		44
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9		2
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome		14
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	TYR CL E G H	7299	12442	ORPHA:895	Waardenburg syndrome type 2		146
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome		490
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive		12
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs		4
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome		310
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome		177
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome		362
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0004930	HP:0004930	Abnormality of the pulmonary vasculature	0	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia		20
HP:0004930	HP:0033571	Peripheral lung neovascularity	1	CL E G H
HP:0004930	HP:0033370	Bronchial telangiectasia	1	CL E G H
HP:0004930	HP:0033427	Pulmonary capillary angioectasia	1	CL E G H
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia		15
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome		94
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal		161
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal		161
HP:0004930	HP:0006548	Pulmonary arteriovenous malformation	1	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	ADAMTS19 CL E G H	171019	17111	OMIM:620067			1
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome		6
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome	HP:0040283 - Occasional	1
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome		147
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1		147
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040282 - Frequent	36
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49		3
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome		101
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	BGN CL E G H	633	1044	OMIM:300989	Meester-Loeys syndrome		7
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1		525
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	BMPR2 CL E G H	659	1078	OMIM:265450	PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1		525
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent	276
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0004930	HP:0006548	Pulmonary arteriovenous malformation	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome		317
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia		36
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia		126
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia		182
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia		23
HP:0004930	HP:0005954	Pulmonary capillary hemangiomatosis	1	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome	.	1
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia		23
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome		7
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations		7
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal		17
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	CITED2 CL E G H	10370	1987	OMIM:614433	ATRIAL SEPTAL DEFECT 8; ASD8		5
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type		5
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis		102
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	CRELD1 CL E G H	78987	14630	OMIM:606217	Atrioventricular septal defect, susceptibility to, 2		19
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII		124
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII		124
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS		72
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis		72
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome		9
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia		116
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia		78
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia		63
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia		27
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia		62
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia		21
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia		542
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia		527
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia		18
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia		73
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia		104
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia		2
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia		167
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome		18
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia		44
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	EDNRB CL E G H	1910	3180	ORPHA:895	Waardenburg syndrome type 2	HP:0040283 - Occasional	55
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1		45
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB		45
HP:0004930	HP:0005954	Pulmonary capillary hemangiomatosis	1	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis	HP:0040281 - Very frequent	40
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis		40
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40
HP:0004930	HP:0005954	Pulmonary capillary hemangiomatosis	1	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1		172
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	ELN CL E G H	2006	3327	OMIM:185500	Supravalvular aortic stenosis		172
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0004930	HP:0006548	Pulmonary arteriovenous malformation	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome		4
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	FADD CL E G H	8772	3573	ORPHA:306550	FADD-related immunodeficiency		3
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	FADD CL E G H	8772	3573	OMIM:613759	INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS		3
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1		63
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis		172
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	FLT4 CL E G H	2324	3767	OMIM:618780	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7; CHTD7		90
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia		1
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia		9
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome		87
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome		37
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6		28
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6		28
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)		28
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)		28
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1		99
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		10
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia		21
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3		11
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	ITPR1 CL E G H	3708	6180	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome	HP:0040283 - Occasional	177
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	JAG1 CL E G H	182	6188	OMIM:617992	DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE		257
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	KITLG CL E G H	4254	6343	ORPHA:895	Waardenburg syndrome type 2	HP:0040283 - Occasional	9
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome		196
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		13
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent	645
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC		92
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome		43
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia		13
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome		33
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome		33
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	MITF CL E G H	4286	7105	ORPHA:895	Waardenburg syndrome type 2	HP:0040283 - Occasional	91
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal		3
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal		3
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S		1269
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome		2
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome		23
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome		117
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome		1
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects		90
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	NKX2-5 CL E G H	1482	2488	OMIM:614432	Ventricular septal defect 3		90
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus		3
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia		50
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome		452
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2		138
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome		102
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia		201
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	PAX6 CL E G H	5080	8620	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome	HP:0040283 - Occasional	194
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal		3
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental		4
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome		291
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent	291
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome		212
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent	212
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome		3
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome		3
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		3
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome		39
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia		200
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome		10
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome		10
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	RPS15A CL E G H	6210	10389	OMIM:618313	DIAMOND-BLACKFAN ANEMIA 20; DBA20
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome		1
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia		31
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia		5
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia		58
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia		20
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1		51
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome		178
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome		178
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8		7
HP:0004930	HP:0006548	Pulmonary arteriovenous malformation	1	SMAD4 CL E G H	4089	6770	OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome		504
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	SNAI2 CL E G H	6591	11094	ORPHA:895	Waardenburg syndrome type 2	HP:0040283 - Occasional	19
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis		2
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome		315
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome		30
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	SOX10 CL E G H	6663	11190	ORPHA:895	Waardenburg syndrome type 2	HP:0040283 - Occasional	61
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia		45
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia		15
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia		3
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9		71
HP:0004930	HP:0005311	Agenesis of pulmonary vessels	1	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.	71
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome		123
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis		82
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type		6
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome		2
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis		44
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9		2
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome		14
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	TYR CL E G H	7299	12442	ORPHA:895	Waardenburg syndrome type 2	HP:0040283 - Occasional	146
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0004930	HP:0005954	Pulmonary capillary hemangiomatosis	1	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome	.	490
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0004930	HP:0005316	Peripheral pulmonary vessel aplasia	1	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive	.	12
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs		4
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome		310
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome		177
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome		362
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362
HP:0004930	HP:0004414	Abnormality of the pulmonary artery	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional	362
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0004930	HP:0011718	Abnormality of the pulmonary veins	1	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia		20
HP:0004930	HP:0030969	Abnormal pulmonary vein physiology	2	CL E G H
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia		15
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome		94
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal		161
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal		161
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	ADAMTS19 CL E G H	171019	17111	OMIM:620067			1
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome		6
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome		147
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1		147
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040284 - Very rare	36
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49		3
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome		101
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	BGN CL E G H	633	1044	OMIM:300989	Meester-Loeys syndrome		7
HP:0004930	HP:0030967	Abnormal pulmonary artery physiology	2	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1		525
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1		525
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	BMPR2 CL E G H	659	1078	OMIM:265450	PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1		525
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome		317
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia		36
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia		126
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia		182
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia		23
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia		23
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome		7
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations		7
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal		17
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	CITED2 CL E G H	10370	1987	OMIM:614433	ATRIAL SEPTAL DEFECT 8; ASD8		5
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type		5
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis		102
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	CRELD1 CL E G H	78987	14630	OMIM:606217	Atrioventricular septal defect, susceptibility to, 2		19
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII		124
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII		124
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis		72
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS		72
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome		9
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia		116
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia		78
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia		63
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia		27
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia		62
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia		21
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia		542
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia		527
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia		18
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia		73
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia		104
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia		2
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia		167
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome		18
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia		44
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1		45
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB		45
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis	HP:0040282 - Frequent	40
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1		172
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	ELN CL E G H	2006	3327	OMIM:185500	Supravalvular aortic stenosis		172
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome		4
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	FADD CL E G H	8772	3573	ORPHA:306550	FADD-related immunodeficiency		3
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	FADD CL E G H	8772	3573	OMIM:613759	INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS		3
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1		63
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis		172
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	FLT4 CL E G H	2324	3767	OMIM:618780	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7; CHTD7		90
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia		1
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia		9
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome		87
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome		37
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6		28
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6		28
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)		28
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)		28
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1		99
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		10
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia		21
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3		11
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	JAG1 CL E G H	182	6188	OMIM:617992	DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE		257
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome		196
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		13
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC		92
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome		43
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia		13
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome		33
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome		33
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal		3
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal		3
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S		1269
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome		2
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome		23
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome		117
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome		1
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects		90
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	NKX2-5 CL E G H	1482	2488	OMIM:614432	Ventricular septal defect 3		90
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus		3
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia		50
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome		452
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2		138
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome		102
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia		201
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal		3
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental		4
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome		291
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome		212
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome		3
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome		3
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		3
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome		39
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia		200
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome		10
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome		10
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	RPS15A CL E G H	6210	10389	OMIM:618313	DIAMOND-BLACKFAN ANEMIA 20; DBA20
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome		1
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia		31
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia		5
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia		58
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia		20
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1		51
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome		178
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome		178
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8		7
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis		2
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome		315
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome		30
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia		45
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia		15
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia		3
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9		71
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome		123
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis		82
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type		6
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome		2
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis		44
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9		2
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome		14
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs		4
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome		310
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome		177
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome		362
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0004930	HP:0030966	Abnormal pulmonary artery morphology	2	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0004930	HP:0030968	Abnormal pulmonary vein morphology	2	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia		20
HP:0004930	HP:0031272	Pulmonary arterial atherosclerosis	3	CL E G H
HP:0004930	HP:0033422	Pulmonary artery adventitial fibrosis	3	CL E G H
HP:0004930	HP:0033421	Pulmonary artery intimal thickening	3	CL E G H
HP:0004930	HP:0033420	Pulmonary arterial plexiform lesion	3	CL E G H
HP:0004930	HP:0034389	Pulmonary vein varix	3	CL E G H
HP:0004930	HP:0033392	Perivascular pre-capillary pulmonary artery inflammation	3	CL E G H
HP:0004930	HP:0033577	In situ pulmonary artery thrombosis	3	CL E G H
HP:0004930	HP:0033389	Bronchopulmonary anastomosis	3	CL E G H
HP:0004930	HP:0004971	Pulmonary artery hypoplasia	3	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040283 - Occasional	15
HP:0004930	HP:0004927	Pulmonary artery dilatation	3	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome		94
HP:0004930	HP:0004935	Pulmonary artery atresia	3	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal		161
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal		161
HP:0004930	HP:0004927	Pulmonary artery dilatation	3	ADAMTS19 CL E G H	171019	17111	OMIM:620067			1
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome		6
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0004930	HP:0004971	Pulmonary artery hypoplasia	3	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0004930	HP:0004935	Pulmonary artery atresia	3	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent	147
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	.	147
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040284 - Very rare
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.	3
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome		101
HP:0004930	HP:0004927	Pulmonary artery dilatation	3	BGN CL E G H	633	1044	OMIM:300989	Meester-Loeys syndrome		7
HP:0004930	HP:0005308	Pulmonary artery vasoconstriction	3	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1	HP:0040282 - Frequent	525
HP:0004930	HP:0005312	Pulmonary aterial intimal fibrosis	3	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1	HP:0040282 - Frequent	525
HP:0004930	HP:0004964	Pulmonary arterial medial hypertrophy	3	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1	HP:0040282 - Frequent	525
HP:0004930	HP:0006518	Pulmonary venous occlusion	3	BMPR2 CL E G H	659	1078	OMIM:265450	PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1		525
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	317
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	36
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	126
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	182
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	23
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	23
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	HP:0040283 - Occasional	7
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations		7
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal		17
HP:0004930	HP:0004935	Pulmonary artery atresia	3	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0004930	HP:0004935	Pulmonary artery atresia	3	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	CITED2 CL E G H	10370	1987	OMIM:614433	ATRIAL SEPTAL DEFECT 8; ASD8		5
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type	HP:0040282 - Frequent	5
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	102
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0004930	HP:0004927	Pulmonary artery dilatation	3	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0004930	HP:0004927	Pulmonary artery dilatation	3	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0004930	HP:0004935	Pulmonary artery atresia	3	CRELD1 CL E G H	78987	14630	OMIM:606217	Atrioventricular septal defect, susceptibility to, 2	.	19
HP:0004930	HP:0005304	Hypoplastic pulmonary veins	3	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII	.	124
HP:0004930	HP:0004960	Absent pulmonary artery	3	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII	.	124
HP:0004930	HP:0004935	Pulmonary artery atresia	3	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0004930	HP:0004935	Pulmonary artery atresia	3	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0004930	HP:0004935	Pulmonary artery atresia	3	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040283 - Occasional	72
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS		72
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0004930	HP:0004935	Pulmonary artery atresia	3	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent	9
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	116
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	78
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	63
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	27
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	62
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	21
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	542
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	527
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	18
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	73
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	104
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	2
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	167
HP:0004930	HP:0004935	Pulmonary artery atresia	3	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent	18
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	44
HP:0004930	HP:0004935	Pulmonary artery atresia	3	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1		45
HP:0004930	HP:0004927	Pulmonary artery dilatation	3	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB	.	45
HP:0004930	HP:0006518	Pulmonary venous occlusion	3	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1		172
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	ELN CL E G H	2006	3327	OMIM:185500	Supravalvular aortic stenosis	.	172
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0004930	HP:0004935	Pulmonary artery atresia	3	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent	4
HP:0004930	HP:0004935	Pulmonary artery atresia	3	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0004930	HP:0004935	Pulmonary artery atresia	3	FADD CL E G H	8772	3573	ORPHA:306550	FADD-related immunodeficiency	HP:0040283 - Occasional	3
HP:0004930	HP:0004935	Pulmonary artery atresia	3	FADD CL E G H	8772	3573	OMIM:613759	INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS		3
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1		63
HP:0004930	HP:0004927	Pulmonary artery dilatation	3	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome	.	1361
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis		172
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0004930	HP:0004935	Pulmonary artery atresia	3	FLT4 CL E G H	2324	3767	OMIM:618780	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7; CHTD7		90
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0004930	HP:0004927	Pulmonary artery dilatation	3	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0004930	HP:0033186	Misalignment of the pulmonary veins	3	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	1
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	9
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040282 - Frequent	87
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040283 - Occasional	37
HP:0004930	HP:0004935	Pulmonary artery atresia	3	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6	.	28
HP:0004930	HP:0005304	Hypoplastic pulmonary veins	3	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6	.	28
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6		28
HP:0004930	HP:0004935	Pulmonary artery atresia	3	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)		28
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)		28
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	10
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	21
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3		11
HP:0004930	HP:0004927	Pulmonary artery dilatation	3	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	JAG1 CL E G H	182	6188	OMIM:617992	DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE		257
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	196
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	13
HP:0004930	HP:0004964	Pulmonary arterial medial hypertrophy	3	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC	.	92
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	43
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	13
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0004930	HP:0004971	Pulmonary artery hypoplasia	3	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.	33
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome	HP:0040281 - Very frequent	33
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome		33
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0004930	HP:0004935	Pulmonary artery atresia	3	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal	.	3
HP:0004930	HP:0004971	Pulmonary artery hypoplasia	3	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal		3
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal		3
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0004930	HP:0004971	Pulmonary artery hypoplasia	3	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S	HP:0040283 - Occasional	1269
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome		2
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.	23
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040283 - Occasional	23
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome		117
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome		1
HP:0004930	HP:0004935	Pulmonary artery atresia	3	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects	HP:0040283 - Occasional	90
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	NKX2-5 CL E G H	1482	2488	OMIM:614432	Ventricular septal defect 3	HP:0040283 - Occasional	90
HP:0004930	HP:0011660	Anomalous origin of one pulmonary artery from ascending aorta	3	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus	HP:0040282 - Frequent	3
HP:0004930	HP:0004971	Pulmonary artery hypoplasia	3	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus	HP:0040284 - Very rare	3
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus	HP:0040283 - Occasional	3
HP:0004930	HP:0004935	Pulmonary artery atresia	3	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus	HP:0040283 - Occasional	3
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	50
HP:0004930	HP:0004935	Pulmonary artery atresia	3	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0004930	HP:0004935	Pulmonary artery atresia	3	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent	452
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2		138
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	102
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	201
HP:0004930	HP:0004935	Pulmonary artery atresia	3	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0004930	HP:0004935	Pulmonary artery atresia	3	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal	.	3
HP:0004930	HP:0004935	Pulmonary artery atresia	3	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental		4
HP:0004930	HP:0004935	Pulmonary artery atresia	3	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus	HP:0040283 - Occasional
HP:0004930	HP:0004971	Pulmonary artery hypoplasia	3	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus	HP:0040284 - Very rare
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus	HP:0040283 - Occasional
HP:0004930	HP:0011660	Anomalous origin of one pulmonary artery from ascending aorta	3	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus	HP:0040282 - Frequent
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome	.	2
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	291
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	212
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	3
HP:0004930	HP:0004935	Pulmonary artery atresia	3	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent	3
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	3
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	39
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	200
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional	10
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	HP:0040282 - Frequent	10
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	RPS15A CL E G H	6210	10389	OMIM:618313	DIAMOND-BLACKFAN ANEMIA 20; DBA20
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	1
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	31
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	5
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	58
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	20
HP:0004930	HP:0005304	Hypoplastic pulmonary veins	3	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2	.
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0004930	HP:0033186	Misalignment of the pulmonary veins	3	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1		51
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040282 - Frequent	178
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome		178
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8		7
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0004930	HP:0004961	Pulmonary artery sling	3	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	2
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	315
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	30
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	45
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	15
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	3
HP:0004930	HP:0004935	Pulmonary artery atresia	3	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.	71
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0004930	HP:0004935	Pulmonary artery atresia	3	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome	HP:0040283 - Occasional	123
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	82
HP:0004930	HP:0004927	Pulmonary artery dilatation	3	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0004930	HP:0004927	Pulmonary artery dilatation	3	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0004930	HP:0004927	Pulmonary artery dilatation	3	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040282 - Frequent	6
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome		2
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0004930	HP:0004935	Pulmonary artery atresia	3	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.	1
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	44
HP:0004930	HP:0004971	Pulmonary artery hypoplasia	3	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9	HP:0040283 - Occasional	2
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0004930	HP:0004927	Pulmonary artery dilatation	3	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome		14
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs	.	4
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040282 - Frequent	310
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome	HP:0040283 - Occasional	177
HP:0004930	HP:0004961	Pulmonary artery sling	3	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome		362
HP:0004930	HP:0004415	Pulmonary artery stenosis	3	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.	362
HP:0004930	HP:0004961	Pulmonary artery sling	3	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040284 - Very rare	362
HP:0004930	HP:0004961	Pulmonary artery sling	3	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040284 - Very rare	362
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0004930	HP:0010772	Anomalous pulmonary venous return	3	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	20
HP:0004930	HP:0011661	Anomalous origin of left pulmonary artery from ascending aorta	4	CL E G H
HP:0004930	HP:0005143	Anomalous origin of right pulmonary artery from ascending aorta	4	CL E G H
HP:0004930	HP:0005160	Total anomalous pulmonary venous return	4	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal		161
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040283 - Occasional	101
HP:0004930	HP:0004937	Pulmonary artery aneurysm	4	BGN CL E G H	633	1044	OMIM:300989	Meester-Loeys syndrome	HP:0040283 - Occasional	7
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations	.	7
HP:0004930	HP:0005160	Total anomalous pulmonary venous return	4	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional	6
HP:0004930	HP:0005160	Total anomalous pulmonary venous return	4	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal		17
HP:0004930	HP:0010773	Partial anomalous pulmonary venous return	4	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004930	HP:0004937	Pulmonary artery aneurysm	4	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0004930	HP:0004937	Pulmonary artery aneurysm	4	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0004930	HP:0005160	Total anomalous pulmonary venous return	4	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS		72
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent	45
HP:0004930	HP:0004937	Pulmonary artery aneurysm	4	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB	.	45
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1		172
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	172
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent	63
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.	172
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004930	HP:0010773	Partial anomalous pulmonary venous return	4	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0004930	HP:0010773	Partial anomalous pulmonary venous return	4	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0004930	HP:0005160	Total anomalous pulmonary venous return	4	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6	.	28
HP:0004930	HP:0005160	Total anomalous pulmonary venous return	4	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)		28
HP:0004930	HP:0005160	Total anomalous pulmonary venous return	4	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0004930	HP:0005160	Total anomalous pulmonary venous return	4	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3	HP:0040283 - Occasional	11
HP:0004930	HP:0004937	Pulmonary artery aneurysm	4	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.	257
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	JAG1 CL E G H	182	6188	OMIM:617992	DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE		257
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent
HP:0004930	HP:0010773	Partial anomalous pulmonary venous return	4	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.	33
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0004930	HP:0005160	Total anomalous pulmonary venous return	4	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal	.	3
HP:0004930	HP:0010773	Partial anomalous pulmonary venous return	4	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome		2
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	13
HP:0004930	HP:0005160	Total anomalous pulmonary venous return	4	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040284 - Very rare	117
HP:0004930	HP:0005160	Total anomalous pulmonary venous return	4	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040284 - Very rare	1
HP:0004930	HP:0005160	Total anomalous pulmonary venous return	4	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0004930	HP:0010773	Partial anomalous pulmonary venous return	4	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2	.	138
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.	36
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004930	HP:0005160	Total anomalous pulmonary venous return	4	RPS15A CL E G H	6210	10389	OMIM:618313	DIAMOND-BLACKFAN ANEMIA 20; DBA20
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0004930	HP:0010773	Partial anomalous pulmonary venous return	4	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8		7
HP:0004930	HP:0010773	Partial anomalous pulmonary venous return	4	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004930	HP:0004937	Pulmonary artery aneurysm	4	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0004930	HP:0004937	Pulmonary artery aneurysm	4	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0004930	HP:0010773	Partial anomalous pulmonary venous return	4	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome		2
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004930	HP:0005160	Total anomalous pulmonary venous return	4	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040284 - Very rare	14
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional	7
HP:0004930	HP:0004969	Peripheral pulmonary artery stenosis	4	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004930	HP:0010773	Partial anomalous pulmonary venous return	4	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0004930	HP:0005160	Total anomalous pulmonary venous return	4	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0004930	HP:0005160	Total anomalous pulmonary venous return	4	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0004930	HP:0011722	Mixed total anomalous pulmonary venous connection	5	CL E G H
HP:0004930	HP:0011721	Infracardiac total anomalous pulmonary venous connection	5	CL E G H
HP:0004930	HP:0011719	Supracardiac total anomalous pulmonary venous connection	5	CL E G H
HP:0004930	HP:0011626	Scimitar anomaly	5	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome	.	2
HP:0004930	HP:0011626	Scimitar anomaly	5	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0004930	HP:0011720	Cardiac total anomalous pulmonary venous connection	5	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177