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 systemic blood pressure (HP:0030972)

Parent Node:
Abnormal renal physiology (HP:0012211)

Parent Node:
Hypertension (HP:0000822)

..Starting node
..Renovascular hypertension (HP:0100817)

Term ID:

100817

Name:

Renovascular hypertension

Synonym:

Hypertension due to renal artery hyperplasia

Definition:

The presence of hypertension related to stenosis of the renal artery.

Comments:

Reference:

HP:0100817

Genes and Diseases:

Child Nodes:

Sister Nodes:

Elevated diastolic blood pressure (HP:0005117)

Elevated mean arterial pressure (HP:0004972)

Elevated systolic blood pressure (HP:0004421)

Episodic hypertension (HP:0000875)

Hypertension associated with pheochromocytoma (HP:0002640)

Hypertensive crisis (HP:0100735)

Portal hypertension (HP:0001409)

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:0100817	HP:0100817	Renovascular hypertension	0	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		415
HP:0100817	HP:0100817	Renovascular hypertension	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0100817	HP:0100817	Renovascular hypertension	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0100817	HP:0100817	Renovascular hypertension	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0100817	HP:0100817	Renovascular hypertension	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0100817	HP:0100817	Renovascular hypertension	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0100817	HP:0100817	Renovascular hypertension	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0100817	HP:0100817	Renovascular hypertension	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0100817	HP:0100817	Renovascular hypertension	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	172
HP:0100817	HP:0100817	Renovascular hypertension	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	111
HP:0100817	HP:0100817	Renovascular hypertension	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0100817	HP:0100817	Renovascular hypertension	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0100817	HP:0100817	Renovascular hypertension	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0100817	HP:0100817	Renovascular hypertension	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0100817	HP:0100817	Renovascular hypertension	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0100817	HP:0100817	Renovascular hypertension	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0100817	HP:0100817	Renovascular hypertension	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0100817	HP:0100817	Renovascular hypertension	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	13
HP:0100817	HP:0100817	Renovascular hypertension	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional	1952
HP:0100817	HP:0100817	Renovascular hypertension	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0100817	HP:0100817	Renovascular hypertension	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent	89
HP:0100817	HP:0100817	Renovascular hypertension	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0100817	HP:0100817	Renovascular hypertension	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0100817	HP:0100817	Renovascular hypertension	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0100817	HP:0100817	Renovascular hypertension	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent
HP:0100817	HP:0100817	Renovascular hypertension	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	6
HP:0100817	HP:0100817	Renovascular hypertension	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0100817	HP:0100817	Renovascular hypertension	0	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		14
HP:0100817	HP:0100817	Renovascular hypertension	0	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		5
HP:0100817	HP:0100817	Renovascular hypertension	0	YY1AP1 CL E G H	55249	30935	OMIM:602531	Grange syndrome	.	5

Genes (30) :ABCC6 BAZ1B BCL7B BUD23 CLIP2 COL3A1 DNAJC30 EIF4H ELN FIG4 FKBP6 GTF2I GTF2IRD1 GTF2IRD2 LIMK1 METTL27 MLXIPL NCF1 NF1 RFC2 STAT1 STX1A TBL2 TMEM270 TOM1 VAC14 VPS37D XYLT1 XYLT2 YY1AP1

Diseases (7) :OMIM:264800 ORPHA:904 ORPHA:286 ORPHA:3472 ORPHA:97685 ORPHA:391487 OMIM:602531

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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