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:0004415	HP:0004415	Pulmonary artery stenosis	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	.	147
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040284 - Very rare
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.	3
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome		101
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	317
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	HP:0040283 - Occasional	7
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations		7
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	102
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	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:0004415	HP:0004415	Pulmonary artery stenosis	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1		45
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1		172
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	ELN CL E G H	2006	3327	OMIM:185500	Supravalvular aortic stenosis	.	172
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1		63
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis		172
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040282 - Frequent	87
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040283 - Occasional	37
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3		11
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	JAG1 CL E G H	182	6188	OMIM:617992	DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE		257
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	196
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC	.	92
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	43
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	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:0004415	HP:0004415	Pulmonary artery stenosis	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome	HP:0040281 - Very frequent	33
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome		33
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040283 - Occasional	23
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.	23
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	NKX2-5 CL E G H	1482	2488	OMIM:614432	Ventricular septal defect 3	HP:0040283 - Occasional	90
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus	HP:0040283 - Occasional	3
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2		138
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	102
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus	HP:0040283 - Occasional
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome	.	2
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	291
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	212
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	3
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	39
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional	10
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	HP:0040282 - Frequent	10
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	1
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040282 - Frequent	178
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome		178
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	2
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	315
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	30
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	82
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	44
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs	.	4
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040282 - Frequent	310
HP:0004415	HP:0004415	Pulmonary artery stenosis	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.	362
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040283 - Occasional	101
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations	.	7
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent	45
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1		172
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	172
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent	63
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.	172
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3	HP:0040283 - Occasional	11
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.	257
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	JAG1 CL E G H	182	6188	OMIM:617992	DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE		257
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.	33
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	13
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2	.	138
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.	36
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional	7
HP:0004415	HP:0004969	Peripheral pulmonary artery stenosis	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent