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)

Grandparent Node:
Vascular tortuosity (HP:0004948)

Parent Node:
Abnormal carotid artery morphology (HP:0005344)

Parent Node:
Arterial tortuosity (HP:0005116)

..Starting node
..Carotid artery tortuosity (HP:0005302)

Term ID:

5302

Name:

Carotid artery tortuosity

Synonym:

Tortuous carotid arteries

Definition:

Abnormal tortuous (i.e., twisted) form of the carotid arteries.

Comments:

Reference:

HP:0005302

Genes and Diseases:

Child Nodes:

Sister Nodes:

Generalized arterial tortuosity (HP:0004955)

Retinal arterial tortuosity (HP:0000631)

Temporal artery tortuosity (HP:0030165)

Tortuous cerebral arteries (HP:0004938)

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:0005302	HP:0005302	Carotid artery tortuosity	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.	192
HP:0005302	HP:0005302	Carotid artery tortuosity	0	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0005302	HP:0005302	Carotid artery tortuosity	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome

Genes (3) :ATP7A COL5A1 IPO8

Diseases (3) :OMIM:304150 OMIM:619329 OMIM:619472

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