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 arterial morphology (HP:0011004)

Parent Node:
Abnormal renal artery morphology (HP:0008776)

Parent Node:
Arterial stenosis (HP:0100545)

..Starting node
..Renal artery stenosis (HP:0001920)

Term ID:

1920

Name:

Renal artery stenosis

Synonym:

Narrowing of kidney artery

Definition:

The presence of stenosis of the renal artery.

Comments:

Reference:

HP:0001920

Genes and Diseases:

Child Nodes:

Sister Nodes:

Carotid artery stenosis (HP:0100546)

Cerebral ischemia (HP:0002637)

Coronary artery atherosclerosis (HP:0001677)

Peripheral arterial stenosis (HP:0004950)

Retinal arteriolar occlusion (HP:0007985)

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:0001920	HP:0001920	Renal artery stenosis	0	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	67
HP:0001920	HP:0001920	Renal artery stenosis	0	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	76
HP:0001920	HP:0001920	Renal artery stenosis	0	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	356
HP:0001920	HP:0001920	Renal artery stenosis	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0001920	HP:0001920	Renal artery stenosis	0	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1		151
HP:0001920	HP:0001920	Renal artery stenosis	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	111
HP:0001920	HP:0001920	Renal artery stenosis	0	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities		1
HP:0001920	HP:0001920	Renal artery stenosis	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0001920	HP:0001920	Renal artery stenosis	0	KIF1B CL E G H	23095	16636	OMIM:171300	PHEOCHROMOCYTOMA	.	202
HP:0001920	HP:0001920	Renal artery stenosis	0	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	2157
HP:0001920	HP:0001920	Renal artery stenosis	0	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	73
HP:0001920	HP:0001920	Renal artery stenosis	0	MAX CL E G H	4149	6913	OMIM:171300	PHEOCHROMOCYTOMA	.	84
HP:0001920	HP:0001920	Renal artery stenosis	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0001920	HP:0001920	Renal artery stenosis	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional	1952
HP:0001920	HP:0001920	Renal artery stenosis	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0001920	HP:0001920	Renal artery stenosis	0	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	178
HP:0001920	HP:0001920	Renal artery stenosis	0	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040283 - Occasional	40
HP:0001920	HP:0001920	Renal artery stenosis	0	RET CL E G H	5979	9967	OMIM:171300	PHEOCHROMOCYTOMA	.	572
HP:0001920	HP:0001920	Renal artery stenosis	0	SDHB CL E G H	6390	10681	OMIM:171300	PHEOCHROMOCYTOMA	.	237
HP:0001920	HP:0001920	Renal artery stenosis	0	SDHD CL E G H	6392	10683	OMIM:171300	PHEOCHROMOCYTOMA	.	129
HP:0001920	HP:0001920	Renal artery stenosis	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent	89
HP:0001920	HP:0001920	Renal artery stenosis	0	TMEM127 CL E G H	55654	26038	OMIM:171300	PHEOCHROMOCYTOMA	.	131
HP:0001920	HP:0001920	Renal artery stenosis	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent
HP:0001920	HP:0001920	Renal artery stenosis	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	6
HP:0001920	HP:0001920	Renal artery stenosis	0	VHL CL E G H	7428	12687	OMIM:171300	PHEOCHROMOCYTOMA	.	490
HP:0001920	HP:0001920	Renal artery stenosis	0	YY1AP1 CL E G H	55249	30935	OMIM:602531	Grange syndrome	.	5

Genes (25) :ABCG5 ABCG8 APOB ELN ENPP1 FIG4 GEMIN4 JAG1 KIF1B LDLR LDLRAP1 MAX MLXIPL NF1 PCSK9 POU3F4 RET SDHB SDHD STAT1 TMEM127 TOM1 VAC14 VHL YY1AP1

Diseases (12) :ORPHA:391665 OMIM:194050 OMIM:208000 ORPHA:3472 OMIM:617913 OMIM:118450 OMIM:171300 ORPHA:97685 OMIM:162200 ORPHA:1435 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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