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 calcification (HP:0004934)

Parent Node:
Arterial calcification (HP:0003207)

..Starting node
..Carotid artery calcification (HP:0031314)

Term ID:

31314

Name:

Carotid artery calcification

Synonym:

Definition:

An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a carotid artery.

Comments:

Reference:

HP:0031314

Genes and Diseases:

Child Nodes:

........

Internal carotid artery calcification (HP:0031307)

........

External carotid artery calcification (HP:0031315)

Sister Nodes:

Calcification of the aorta (HP:0004963)

Coronary artery calcification (HP:0001717)

Generalized arterial calcification (HP:0004940)

Intracranial arterial calcification (HP:0031306)

Medial arterial calcification (HP:0012456)

Peripheral arterial calcification (HP:0031301)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031314	HP:0031314	Carotid artery calcification	0	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1	151
HP:0031314	HP:0031315	External carotid artery calcification	1	CL E G H
HP:0031314	HP:0031307	Internal carotid artery calcification	1	CL E G H

Genes (1) :ENPP1

Diseases (1) :OMIM:208000

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