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 pulmonary artery morphology (HP:0030966)

Parent Node:
Pulmonary artery stenosis (HP:0004415)

..Starting node
..Peripheral pulmonary artery stenosis (HP:0004969)

Term ID:

4969

Name:

Peripheral pulmonary artery stenosis

Synonym:

Narrowing of peripheral lung artery; peripheral pulmonary stenosis; Peripheral pulmonic stenosis

Definition:

Stenosis of a peripheral branch of the pulmonary artery.

Comments:

Reference:

HP:0004969

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040283 - Occasional	101
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations	.	7
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent	45
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1		172
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	172
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent	63
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.	172
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3	HP:0040283 - Occasional	11
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.	257
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	JAG1 CL E G H	182	6188	OMIM:617992	DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE		257
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.	33
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	13
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2	.	138
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.	36
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004969	HP:0004969	Peripheral 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:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional	7
HP:0004969	HP:0004969	Peripheral pulmonary artery stenosis	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent

Genes (40) :ALDH18A1 BAZ1B BCL7B BCOR BUD23 CCNQ CLIP2 DNAJC30 EFEMP2 EIF4H ELN FBLN5 FGFR1 FKBP6 GTF2I GTF2IRD1 GTF2IRD2 IFT43 JAG1 LIMK1 LTBP1 METTL27 MGP MLXIPL NAA10 NCF1 NOTCH2 PIGL PIGN PIGO PPP1CB RFC2 SKIC2 SKIC3 STX1A TAOK1 TBL2 TMEM270 UBE2A VPS37D

Diseases (21) :ORPHA:90348 ORPHA:904 ORPHA:2712 OMIM:300707 ORPHA:90349 OMIM:123700 OMIM:194050 OMIM:613001 OMIM:614099 OMIM:118450 OMIM:617992 OMIM:245150 OMIM:300855 OMIM:610205 OMIM:280000 ORPHA:280633 OMIM:614749 OMIM:617506 ORPHA:84064 OMIM:619575 ORPHA:163956

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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