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 carotid artery morphology (HP:0005344)

Parent Node:
Arterial stenosis (HP:0100545)

..Starting node
..Carotid artery stenosis (HP:0100546)

Term ID:

100546

Name:

Carotid artery stenosis

Synonym:

Carotid stenosis; Narrowing of carotid artery

Definition:

Narrowing of the carotid arteries.

Comments:

Reference:

HP:0100546

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cerebral ischemia (HP:0002637)

Coronary artery atherosclerosis (HP:0001677)

Peripheral arterial stenosis (HP:0004950)

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:0100546	HP:0100546	Carotid artery stenosis	0	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease	HP:0040283 - Occasional	191
HP:0100546	HP:0100546	Carotid artery stenosis	0	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1		76
HP:0100546	HP:0100546	Carotid artery stenosis	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0100546	HP:0100546	Carotid artery stenosis	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0100546	HP:0100546	Carotid artery stenosis	0	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)		34
HP:0100546	HP:0100546	Carotid artery stenosis	0	MYH11 CL E G H	4629	7569	OMIM:132900	Aortic aneurysm, familial thoracic 4		418
HP:0100546	HP:0100546	Carotid artery stenosis	0	YY1AP1 CL E G H	55249	30935	OMIM:602531	Grange syndrome	.	5

Genes (6) :ABCA1 ABCG8 AEBP1 HTRA1 MYH11 YY1AP1

Diseases (7) :ORPHA:31150 OMIM:210250 ORPHA:536532 OMIM:618000 OMIM:600142 OMIM:132900 OMIM:602531

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