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:
Arteriosclerosis (HP:0002634)

Parent Node:
Atherosclerosis (HP:0002621)

..Starting node
..Atherosclerotic lesion (HP:0031678)

Term ID:

31678

Name:

Atherosclerotic lesion

Synonym:

Definition:

A lesion associated with atherosclerosis, a multifactorial and multipart progressive disease manifested by the focal development within the arterial wall of lesions, that ranges from teh development of a fatty streak, plaque progression, and plaque disruption. Atherosclerotic lesions demonstrate consistent morphological characteristics, which indicate that each type may stabilize temporarily or permanently and that progression to the next type may require an additional stimulus.

Comments:

Reference:

HP:0031678

Genes and Diseases:

Child Nodes:

........

Type IV atherosclerotic lesion (HP:0002635)

........

Type I atherosclerotic lesion (HP:0031679)

........

Type II atherosclerotic lesion (HP:0031680)

........

Type III atherosclerotic lesion (HP:0031681)

........

Type V atherosclerotic lesion (HP:0031682)

........

Type VI atherosclerotic lesion (HP:0031683)

Sister Nodes:

Accelerated atherosclerosis (HP:0004943)

Aortic atherosclerotic lesion (HP:0012397)

Cerebral artery atherosclerosis (HP:0007201)

Coronary artery atherosclerosis (HP:0001677)

Fatty streak (HP:0031011)

Foam cells (HP:0003651)

Precocious atherosclerosis (HP:0004416)

Thin-cap fibroatheroma (HP:0031012)

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:0031678	HP:0031678	Atherosclerotic lesion	0	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia		39
HP:0031678	HP:0031683	Type VI atherosclerotic lesion	1	CL E G H
HP:0031678	HP:0031682	Type V atherosclerotic lesion	1	CL E G H
HP:0031678	HP:0031681	Type III atherosclerotic lesion	1	CL E G H
HP:0031678	HP:0031680	Type II atherosclerotic lesion	1	CL E G H
HP:0031678	HP:0031679	Type I atherosclerotic lesion	1	CL E G H
HP:0031678	HP:0002635	Type IV atherosclerotic lesion	1	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia	HP:0040282 - Frequent	39

Genes (1) :APOE

Diseases (1) :ORPHA:412

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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