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:
Arterial stenosis (HP:0100545)

..Starting node
..Peripheral arterial stenosis (HP:0004950)

Term ID:

4950

Name:

Peripheral arterial stenosis

Synonym:

Arterial disease of legs; Occlusive arterial disease; Occlusive vascular disease; Peripheral artery disease; Peripheral artery occlusive disease; Peripheral vascular disease

Definition:

Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quantified as an ankle-brachial index of less than 0.9, and may be manifested clinically as claudication.

Comments:

Reference:

HP:0004950

Genes and Diseases:

Child Nodes:

........

Premature occlusive vascular stenosis (HP:0005297)

Sister Nodes:

Carotid artery stenosis (HP:0100546)

Cerebral ischemia (HP:0002637)

Coronary artery atherosclerosis (HP:0001677)

Renal artery stenosis (HP:0001920)

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:0004950	HP:0004950	Peripheral arterial stenosis	0	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste		415
HP:0004950	HP:0004950	Peripheral arterial stenosis	0	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	67
HP:0004950	HP:0004950	Peripheral arterial stenosis	0	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	76
HP:0004950	HP:0004950	Peripheral arterial stenosis	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	94
HP:0004950	HP:0004950	Peripheral arterial stenosis	0	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I	.	260
HP:0004950	HP:0004950	Peripheral arterial stenosis	0	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	356
HP:0004950	HP:0004950	Peripheral arterial stenosis	0	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia	HP:0040283 - Occasional	39
HP:0004950	HP:0004950	Peripheral arterial stenosis	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	172
HP:0004950	HP:0004950	Peripheral arterial stenosis	0	ELN CL E G H	2006	3327	OMIM:185500	Supravalvular aortic stenosis	.	172
HP:0004950	HP:0004950	Peripheral arterial stenosis	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	1361
HP:0004950	HP:0004950	Peripheral arterial stenosis	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	23
HP:0004950	HP:0004950	Peripheral arterial stenosis	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional
HP:0004950	HP:0004950	Peripheral arterial stenosis	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional	86
HP:0004950	HP:0004950	Peripheral arterial stenosis	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional	86
HP:0004950	HP:0004950	Peripheral arterial stenosis	0	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis	HP:0040282 - Frequent	57
HP:0004950	HP:0004950	Peripheral arterial stenosis	0	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	2157
HP:0004950	HP:0004950	Peripheral arterial stenosis	0	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	73
HP:0004950	HP:0004950	Peripheral arterial stenosis	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0004950	HP:0004950	Peripheral arterial stenosis	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	6
HP:0004950	HP:0004950	Peripheral arterial stenosis	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	13
HP:0004950	HP:0004950	Peripheral arterial stenosis	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	11
HP:0004950	HP:0004950	Peripheral arterial stenosis	0	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis	HP:0040282 - Frequent	97
HP:0004950	HP:0004950	Peripheral arterial stenosis	0	MYH11 CL E G H	4629	7569	ORPHA:229	Familial aortic dissection	HP:0040283 - Occasional	418
HP:0004950	HP:0004950	Peripheral arterial stenosis	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	418
HP:0004950	HP:0004950	Peripheral arterial stenosis	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	326
HP:0004950	HP:0004950	Peripheral arterial stenosis	0	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	178
HP:0004950	HP:0004950	Peripheral arterial stenosis	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	41
HP:0004950	HP:0004950	Peripheral arterial stenosis	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	7
HP:0004950	HP:0004950	Peripheral arterial stenosis	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	260
HP:0004950	HP:0004950	Peripheral arterial stenosis	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	504
HP:0004950	HP:0004950	Peripheral arterial stenosis	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	162
HP:0004950	HP:0004950	Peripheral arterial stenosis	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	85
HP:0004950	HP:0004950	Peripheral arterial stenosis	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	239
HP:0004950	HP:0004950	Peripheral arterial stenosis	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	253
HP:0004950	HP:0004950	Peripheral arterial stenosis	0	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis	HP:0040282 - Frequent	23
HP:0004950	HP:0005297	Premature occlusive vascular stenosis	1	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste	.	415

Genes (32) :ABCC6 ABCG5 ABCG8 ACTA2 AGXT APOB APOE ELN FBN1 FOXE3 HEY2 IDS JAK2 LDLR LDLRAP1 LMNA LOX MAT2A MFAP5 MPL MYH11 MYLK PCSK9 PRKG1 SMAD2 SMAD3 SMAD4 TGFB2 TGFB3 TGFBR1 TGFBR2 THPO

Diseases (11) :OMIM:177850 ORPHA:391665 ORPHA:91387 OMIM:259900 ORPHA:412 OMIM:185500 ORPHA:217093 ORPHA:217085 ORPHA:71493 ORPHA:79474 ORPHA:229

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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