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:
Atherosclerosis (HP:0002621)

..Starting node
..Accelerated atherosclerosis (HP:0004943)

Term ID:

4943

Name:

Accelerated atherosclerosis

Synonym:

Accelerated plaque build-up in arteries

Definition:

Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors.

Comments:

Reference:

HP:0004943

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aortic atherosclerotic lesion (HP:0012397)

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:0004943	HP:0004943	Accelerated atherosclerosis	0	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease	HP:0040282 - Frequent	191
HP:0004943	HP:0004943	Accelerated atherosclerosis	0	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		415
HP:0004943	HP:0004943	Accelerated atherosclerosis	0	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia	HP:0040283 - Occasional	39
HP:0004943	HP:0004943	Accelerated atherosclerosis	0	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4		1
HP:0004943	HP:0004943	Accelerated atherosclerosis	0	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	HP:0040282 - Frequent	11
HP:0004943	HP:0004943	Accelerated atherosclerosis	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040282 - Frequent	645
HP:0004943	HP:0004943	Accelerated atherosclerosis	0	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		14
HP:0004943	HP:0004943	Accelerated atherosclerosis	0	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		5

Genes (8) :ABCA1 ABCC6 APOE CELA2A CYP7A1 LMNA XYLT1 XYLT2

Diseases (6) :ORPHA:31150 OMIM:264800 ORPHA:412 OMIM:618620 ORPHA:209902 ORPHA:280365

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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