Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Abnormal aortic morphology (HP:0001679)

Parent Node:
Atherosclerosis (HP:0002621)

..Starting node
..Aortic atherosclerotic lesion (HP:0012397)

Term ID:

12397

Name:

Aortic atherosclerotic lesion

Synonym:

Aortic atherosclerosis; Atherosclerosis of the aorta; Atherosclerotic changes of aorta; Plaque build-up in aorta artery

Definition:

The presence of atheromas or atherosclerotic plaques in the aorta.

Comments:

Reference:

HP:0012397

Genes and Diseases:

Child Nodes:

Sister Nodes:

Accelerated atherosclerosis (HP:0004943)

Atherosclerotic lesion (HP:0031678)

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:0012397	HP:0012397	Aortic atherosclerotic lesion	0	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	67
HP:0012397	HP:0012397	Aortic atherosclerotic lesion	0	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	76
HP:0012397	HP:0012397	Aortic atherosclerotic lesion	0	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	356
HP:0012397	HP:0012397	Aortic atherosclerotic lesion	0	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia	HP:0040283 - Occasional	39
HP:0012397	HP:0012397	Aortic atherosclerotic lesion	0	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	HP:0040282 - Frequent	11
HP:0012397	HP:0012397	Aortic atherosclerotic lesion	0	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	2157
HP:0012397	HP:0012397	Aortic atherosclerotic lesion	0	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	73
HP:0012397	HP:0012397	Aortic atherosclerotic lesion	0	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent	645
HP:0012397	HP:0012397	Aortic atherosclerotic lesion	0	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	178

Genes (9) :ABCG5 ABCG8 APOB APOE CYP7A1 LDLR LDLRAP1 LMNA PCSK9

Diseases (4) :ORPHA:391665 ORPHA:412 ORPHA:209902 ORPHA:363618

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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