Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal heart valve physiology (HP:0031653)

Parent Node:
Abnormal pulmonary valve physiology (HP:0031654)

..Starting node
..Pulmonic stenosis (HP:0001642)

Term ID:

1642

Name:

Pulmonic stenosis

Synonym:

Narrowing of pulmonic valve; Pulmonary stenosis; Pulmonary valve stenosis; Pulmonic valve stenosis

Definition:

A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).

Comments:

Reference:

HP:0001642

Genes and Diseases:

Child Nodes:

Sister Nodes:

Pulmonary insufficiency (HP:0010444)

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:0001642	HP:0001642	Pulmonic stenosis	0	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	58
HP:0001642	HP:0001642	Pulmonic stenosis	0	ADAMTS10 CL E G H	81794	13201	ORPHA:3449	Weill-Marchesani syndrome	HP:0040283 - Occasional	63
HP:0001642	HP:0001642	Pulmonic stenosis	0	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1		63
HP:0001642	HP:0001642	Pulmonic stenosis	0	ADAMTS19 CL E G H	171019	17111	OMIM:620067			1
HP:0001642	HP:0001642	Pulmonic stenosis	0	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency	HP:0040283 - Occasional	26
HP:0001642	HP:0001642	Pulmonic stenosis	0	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0001642	HP:0001642	Pulmonic stenosis	0	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16	HP:0040283 - Occasional	32
HP:0001642	HP:0001642	Pulmonic stenosis	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	.	147
HP:0001642	HP:0001642	Pulmonic stenosis	0	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0001642	HP:0001642	Pulmonic stenosis	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040282 - Frequent	36
HP:0001642	HP:0001642	Pulmonic stenosis	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0001642	HP:0001642	Pulmonic stenosis	0	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent	29
HP:0001642	HP:0001642	Pulmonic stenosis	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001642	HP:0001642	Pulmonic stenosis	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001642	HP:0001642	Pulmonic stenosis	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	.	101
HP:0001642	HP:0001642	Pulmonic stenosis	0	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	.	13
HP:0001642	HP:0001642	Pulmonic stenosis	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040284 - Very rare	2
HP:0001642	HP:0001642	Pulmonic stenosis	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	276
HP:0001642	HP:0001642	Pulmonic stenosis	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0001642	HP:0001642	Pulmonic stenosis	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0001642	HP:0001642	Pulmonic stenosis	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0001642	HP:0001642	Pulmonic stenosis	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent	276
HP:0001642	HP:0001642	Pulmonic stenosis	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0001642	HP:0001642	Pulmonic stenosis	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001642	HP:0001642	Pulmonic stenosis	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040282 - Frequent	33
HP:0001642	HP:0001642	Pulmonic stenosis	0	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS		1
HP:0001642	HP:0001642	Pulmonic stenosis	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.	6
HP:0001642	HP:0001642	Pulmonic stenosis	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0001642	HP:0001642	Pulmonic stenosis	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0001642	HP:0001642	Pulmonic stenosis	0	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45		39
HP:0001642	HP:0001642	Pulmonic stenosis	0	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001642	HP:0001642	Pulmonic stenosis	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001642	HP:0001642	Pulmonic stenosis	0	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome		749
HP:0001642	HP:0001642	Pulmonic stenosis	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040284 - Very rare	291
HP:0001642	HP:0001642	Pulmonic stenosis	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040284 - Very rare	291
HP:0001642	HP:0001642	Pulmonic stenosis	0	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS		92
HP:0001642	HP:0001642	Pulmonic stenosis	0	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1	.	73
HP:0001642	HP:0001642	Pulmonic stenosis	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	27
HP:0001642	HP:0001642	Pulmonic stenosis	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001642	HP:0001642	Pulmonic stenosis	0	DSG1 CL E G H	1828	3048	OMIM:615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	HP:0040283 - Occasional	16
HP:0001642	HP:0001642	Pulmonic stenosis	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001642	HP:0001642	Pulmonic stenosis	0	ELN CL E G H	2006	3327	OMIM:185500	Supravalvular aortic stenosis	.	172
HP:0001642	HP:0001642	Pulmonic stenosis	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	172
HP:0001642	HP:0001642	Pulmonic stenosis	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0001642	HP:0001642	Pulmonic stenosis	0	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2	.	151
HP:0001642	HP:0001642	Pulmonic stenosis	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040284 - Very rare	250
HP:0001642	HP:0001642	Pulmonic stenosis	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	114
HP:0001642	HP:0001642	Pulmonic stenosis	0	FBN1 CL E G H	2200	3603	ORPHA:3449	Weill-Marchesani syndrome	HP:0040283 - Occasional	1361
HP:0001642	HP:0001642	Pulmonic stenosis	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant	.	1361
HP:0001642	HP:0001642	Pulmonic stenosis	0	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0001642	HP:0001642	Pulmonic stenosis	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001642	HP:0001642	Pulmonic stenosis	0	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.	184
HP:0001642	HP:0001642	Pulmonic stenosis	0	FLT4 CL E G H	2324	3767	OMIM:618780	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7; CHTD7		90
HP:0001642	HP:0001642	Pulmonic stenosis	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.	37
HP:0001642	HP:0001642	Pulmonic stenosis	0	GATA4 CL E G H	2626	4173	OMIM:607941	Atrial septal defect 2		87
HP:0001642	HP:0001642	Pulmonic stenosis	0	GATA4 CL E G H	2626	4173	OMIM:614429	Ventricular septal defect 1	HP:0040283 - Occasional	87
HP:0001642	HP:0001642	Pulmonic stenosis	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects	.	37
HP:0001642	HP:0001642	Pulmonic stenosis	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040283 - Occasional	37
HP:0001642	HP:0001642	Pulmonic stenosis	0	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6	.	28
HP:0001642	HP:0001642	Pulmonic stenosis	0	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)	.	28
HP:0001642	HP:0001642	Pulmonic stenosis	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0001642	HP:0001642	Pulmonic stenosis	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001642	HP:0001642	Pulmonic stenosis	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0001642	HP:0001642	Pulmonic stenosis	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0001642	HP:0001642	Pulmonic stenosis	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0001642	HP:0001642	Pulmonic stenosis	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0001642	HP:0001642	Pulmonic stenosis	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040281 - Very frequent	113
HP:0001642	HP:0001642	Pulmonic stenosis	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0001642	HP:0001642	Pulmonic stenosis	0	IGFBP7 CL E G H	3490	5476	OMIM:614224	Retinal arterial macroaneurysm with supravalvular pulmonic stenosis	.	2
HP:0001642	HP:0001642	Pulmonic stenosis	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0001642	HP:0001642	Pulmonic stenosis	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome	.	283
HP:0001642	HP:0001642	Pulmonic stenosis	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0001642	HP:0001642	Pulmonic stenosis	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0001642	HP:0001642	Pulmonic stenosis	0	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome		13
HP:0001642	HP:0001642	Pulmonic stenosis	0	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2	HP:0040283 - Occasional	53
HP:0001642	HP:0001642	Pulmonic stenosis	0	KIF20A CL E G H	10112	9787	OMIM:619433	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6; RCM6
HP:0001642	HP:0001642	Pulmonic stenosis	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	196
HP:0001642	HP:0001642	Pulmonic stenosis	0	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0001642	HP:0001642	Pulmonic stenosis	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001642	HP:0001642	Pulmonic stenosis	0	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome		124
HP:0001642	HP:0001642	Pulmonic stenosis	0	LTBP2 CL E G H	4053	6715	ORPHA:3449	Weill-Marchesani syndrome	HP:0040283 - Occasional	123
HP:0001642	HP:0001642	Pulmonic stenosis	0	LTBP2 CL E G H	4053	6715	OMIM:614819	Weill-Marchesani syndrome 3	.	123
HP:0001642	HP:0001642	Pulmonic stenosis	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0001642	HP:0001642	Pulmonic stenosis	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0001642	HP:0001642	Pulmonic stenosis	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	134
HP:0001642	HP:0001642	Pulmonic stenosis	0	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3		134
HP:0001642	HP:0001642	Pulmonic stenosis	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0001642	HP:0001642	Pulmonic stenosis	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	178
HP:0001642	HP:0001642	Pulmonic stenosis	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4	.	178
HP:0001642	HP:0001642	Pulmonic stenosis	0	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome	HP:0040281 - Very frequent	178
HP:0001642	HP:0001642	Pulmonic stenosis	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	.	11
HP:0001642	HP:0001642	Pulmonic stenosis	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0001642	HP:0001642	Pulmonic stenosis	0	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.	33
HP:0001642	HP:0001642	Pulmonic stenosis	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0001642	HP:0001642	Pulmonic stenosis	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0001642	HP:0001642	Pulmonic stenosis	0	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0001642	HP:0001642	Pulmonic stenosis	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	13
HP:0001642	HP:0001642	Pulmonic stenosis	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	31
HP:0001642	HP:0001642	Pulmonic stenosis	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional
HP:0001642	HP:0001642	Pulmonic stenosis	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	65
HP:0001642	HP:0001642	Pulmonic stenosis	0	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2	.	43
HP:0001642	HP:0001642	Pulmonic stenosis	0	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy	.	9
HP:0001642	HP:0001642	Pulmonic stenosis	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional	1952
HP:0001642	HP:0001642	Pulmonic stenosis	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040284 - Very rare	1952
HP:0001642	HP:0001642	Pulmonic stenosis	0	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome	HP:0040281 - Very frequent	1952
HP:0001642	HP:0001642	Pulmonic stenosis	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0001642	HP:0001642	Pulmonic stenosis	0	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome		1952
HP:0001642	HP:0001642	Pulmonic stenosis	0	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus	HP:0040283 - Occasional	3
HP:0001642	HP:0001642	Pulmonic stenosis	0	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5	.	452
HP:0001642	HP:0001642	Pulmonic stenosis	0	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2	.	138
HP:0001642	HP:0001642	Pulmonic stenosis	0	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6		102
HP:0001642	HP:0001642	Pulmonic stenosis	0	NRXN1 CL E G H	9378	8008	OMIM:614325	Pitt-Hopkins-Like syndrome 2	.	470
HP:0001642	HP:0001642	Pulmonic stenosis	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001642	HP:0001642	Pulmonic stenosis	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0001642	HP:0001642	Pulmonic stenosis	0	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental		4
HP:0001642	HP:0001642	Pulmonic stenosis	0	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus	HP:0040283 - Occasional
HP:0001642	HP:0001642	Pulmonic stenosis	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040283 - Occasional	138
HP:0001642	HP:0001642	Pulmonic stenosis	0	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040282 - Frequent	9
HP:0001642	HP:0001642	Pulmonic stenosis	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0001642	HP:0001642	Pulmonic stenosis	0	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome	HP:0040283 - Occasional	58
HP:0001642	HP:0001642	Pulmonic stenosis	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040284 - Very rare	4
HP:0001642	HP:0001642	Pulmonic stenosis	0	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1		291
HP:0001642	HP:0001642	Pulmonic stenosis	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0001642	HP:0001642	Pulmonic stenosis	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent	291
HP:0001642	HP:0001642	Pulmonic stenosis	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0001642	HP:0001642	Pulmonic stenosis	0	RAD21 CL E G H	5885	9811	OMIM:611376	Mungan syndrome	.	25
HP:0001642	HP:0001642	Pulmonic stenosis	0	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5		212
HP:0001642	HP:0001642	Pulmonic stenosis	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent	212
HP:0001642	HP:0001642	Pulmonic stenosis	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001642	HP:0001642	Pulmonic stenosis	0	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8		39
HP:0001642	HP:0001642	Pulmonic stenosis	0	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome	HP:0040283 - Occasional	11
HP:0001642	HP:0001642	Pulmonic stenosis	0	RPL27 CL E G H	6155	10328	OMIM:617408	Diamond-Blackfan anemia 16	.	1
HP:0001642	HP:0001642	Pulmonic stenosis	0	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia	HP:0040283 - Occasional	4
HP:0001642	HP:0001642	Pulmonic stenosis	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	40
HP:0001642	HP:0001642	Pulmonic stenosis	0	SGO1 CL E G H	151648	25088	OMIM:616201	Chronic atrial and intestinal dysrhythmia	HP:0040283 - Occasional	2
HP:0001642	HP:0001642	Pulmonic stenosis	0	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040282 - Frequent	74
HP:0001642	HP:0001642	Pulmonic stenosis	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0001642	HP:0001642	Pulmonic stenosis	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	HP:0040283 - Occasional
HP:0001642	HP:0001642	Pulmonic stenosis	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0001642	HP:0001642	Pulmonic stenosis	0	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8		7
HP:0001642	HP:0001642	Pulmonic stenosis	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040283 - Occasional	260
HP:0001642	HP:0001642	Pulmonic stenosis	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0001642	HP:0001642	Pulmonic stenosis	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3	.	91
HP:0001642	HP:0001642	Pulmonic stenosis	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0001642	HP:0001642	Pulmonic stenosis	0	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9		30
HP:0001642	HP:0001642	Pulmonic stenosis	0	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0001642	HP:0001642	Pulmonic stenosis	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0001642	HP:0001642	Pulmonic stenosis	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.	71
HP:0001642	HP:0001642	Pulmonic stenosis	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001642	HP:0001642	Pulmonic stenosis	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	73
HP:0001642	HP:0001642	Pulmonic stenosis	0	TAB2 CL E G H	23118	17075	ORPHA:228410	Polyvalvular heart disease syndrome	HP:0040283 - Occasional	11
HP:0001642	HP:0001642	Pulmonic stenosis	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040284 - Very rare	13
HP:0001642	HP:0001642	Pulmonic stenosis	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001642	HP:0001642	Pulmonic stenosis	0	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	.
HP:0001642	HP:0001642	Pulmonic stenosis	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001642	HP:0001642	Pulmonic stenosis	0	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay	.
HP:0001642	HP:0001642	Pulmonic stenosis	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001642	HP:0001642	Pulmonic stenosis	0	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	HP:0040283 - Occasional	20
HP:0001642	HP:0001642	Pulmonic stenosis	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040282 - Frequent	83
HP:0001642	HP:0001642	Pulmonic stenosis	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.	83
HP:0001642	HP:0001642	Pulmonic stenosis	0	WNT4 CL E G H	54361	12783	ORPHA:139466	SERKAL syndrome	HP:0040282 - Frequent	4
HP:0001642	HP:0001642	Pulmonic stenosis	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.	362
HP:0001642	HP:0001642	Pulmonic stenosis	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362
HP:0001642	HP:0001642	Pulmonic stenosis	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional	362
HP:0001642	HP:0001642	Pulmonic stenosis	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked	.	39
HP:0001642	HP:0001642	Pulmonic stenosis	0	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome	HP:0040283 - Occasional	397
HP:0001642	HP:0001642	Pulmonic stenosis	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001642	HP:0034349	Supravalvar pulmonary stenosis	1	CL E G H
HP:0001642	HP:0034350	Valvular pulmonary stenosis	1	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental		4
HP:0001642	HP:0034348	Subpulmonary stenosis	1	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental		4

Genes (130) :ACAD8 ADAMTS10 ADAMTS19 ADK AGO2 ANKS6 ARHGAP31 ARPC4 B3GLCT B4GALT7 BAZ1B BCL7B BCOR BMP2 BPTF BRAF BUB1B BUD23 CCDC22 CCDC32 CDC42 CHD7 CHST3 CIC CIROP CLIP2 COL3A1 CREBBP CUL3 CYP24A1 DCHS1 DNAJC30 DSG1 EIF4H ELN ENPP1 EP300 FAT4 FBN1 FBXW11 FKBP6 FKTN FLT4 G6PC3 GATA4 GATA6 GDF1 GPC3 GPC4 GTF2I GTF2IRD1 GTF2IRD2 HIVEP2 HRAS IGFBP7 KANSL1 KAT6A KCNH1 KDM6A KIF20A KRAS LIMK1 LRP4 LTBP2 LZTR1 MAP2K1 MAP2K2 MAP3K7 METTL27 MGP MLXIPL MRAS NCF1 NDUFAF3 NDUFB8 NDUFS2 NEK8 NEK9 NF1 NKX2-6 NOTCH1 NOTCH2 NRAS NRXN1 OTUD5 PGAP1 PLD1 PLXND1 POLR3A PPP1CB PRDM5 PSMD12 PTPN11 RAB23 RAD21 RAF1 RFC2 RIT1 RNF135 RPL27 SARDH SCO2 SGO1 SHOC2 SKIC3 SLC29A3 SMAD2 SMAD3 SMC3 SOS1 SOS2 SPRED1 SPRED2 STRA6 STX1A SURF1 TAB2 TBCK TBL2 TBX2 TMEM270 TRAF7 VPS37D WAC WASHC5 WNT4 ZEB2 ZIC3 ZNF469 ZNF699

Diseases (126) :ORPHA:79159 ORPHA:3449 OMIM:277600 OMIM:620067 OMIM:614300 OMIM:619149 OMIM:615382 OMIM:100300 OMIM:620141 ORPHA:709 OMIM:261540 ORPHA:75496 ORPHA:904 OMIM:300166 OMIM:617877 ORPHA:529962 ORPHA:1340 OMIM:115150 OMIM:163950 OMIM:613706 ORPHA:500 OMIM:257300 ORPHA:7 OMIM:619123 OMIM:616737 OMIM:214800 OMIM:143095 OMIM:617600 OMIM:619702 OMIM:618343 ORPHA:353281 ORPHA:353277 OMIM:619239 OMIM:143880 ORPHA:314679 OMIM:615508 OMIM:185500 OMIM:194050 OMIM:613312 ORPHA:353284 OMIM:608328 OMIM:618914 OMIM:253800 OMIM:618780 OMIM:612541 OMIM:607941 OMIM:614429 OMIM:600001 ORPHA:2255 OMIM:613854 OMIM:208530 OMIM:312870 OMIM:616977 ORPHA:3071 OMIM:218040 OMIM:614224 ORPHA:363958 OMIM:610443 ORPHA:363965 OMIM:616268 OMIM:611816 OMIM:300867 OMIM:619433 OMIM:609942 OMIM:212780 OMIM:614819 OMIM:616564 OMIM:605275 OMIM:615279 OMIM:615280 ORPHA:638 OMIM:617137 OMIM:245150 OMIM:618499 ORPHA:70474 OMIM:615415 OMIM:614262 ORPHA:97685 ORPHA:363700 OMIM:601321 OMIM:193520 ORPHA:3384 OMIM:616028 OMIM:610205 OMIM:613224 OMIM:614325 OMIM:301056 OMIM:615802 OMIM:212093 ORPHA:3455 ORPHA:2701 OMIM:617506 ORPHA:90354 OMIM:151100 OMIM:201000 OMIM:611376 OMIM:611553 OMIM:615355 ORPHA:137634 OMIM:617408 ORPHA:3129 OMIM:616201 OMIM:607721 OMIM:222470 OMIM:602782 OMIM:619657 ORPHA:284984 OMIM:613795 OMIM:610759 OMIM:610733 OMIM:616559 ORPHA:137605 OMIM:619745 OMIM:601186 ORPHA:228410 ORPHA:488632 OMIM:618223 OMIM:618164 ORPHA:284169 OMIM:220210 ORPHA:139466 OMIM:235730 ORPHA:261552 ORPHA:261537 OMIM:306955 OMIM:619488

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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