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
..Precocious atherosclerosis (HP:0004416)

Term ID:

4416

Name:

Precocious atherosclerosis

Synonym:

Premature atherosclerosis; Premature plaque build-up in arteries

Definition:

Comments:

Reference:

HP:0004416

Genes and Diseases:

Child Nodes:

Sister Nodes:

Accelerated atherosclerosis (HP:0004943)

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)

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:0004416	HP:0004416	Precocious atherosclerosis	0	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040281 - Very frequent	67
HP:0004416	HP:0004416	Precocious atherosclerosis	0	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040281 - Very frequent	76
HP:0004416	HP:0004416	Precocious atherosclerosis	0	APOA5 CL E G H	116519	17288	OMIM:145750	Hypertriglyceridemia, familial	.	7
HP:0004416	HP:0004416	Precocious atherosclerosis	0	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040281 - Very frequent	356
HP:0004416	HP:0004416	Precocious atherosclerosis	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional	114
HP:0004416	HP:0004416	Precocious atherosclerosis	0	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040281 - Very frequent	2157
HP:0004416	HP:0004416	Precocious atherosclerosis	0	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040281 - Very frequent	73
HP:0004416	HP:0004416	Precocious atherosclerosis	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040282 - Frequent	645
HP:0004416	HP:0004416	Precocious atherosclerosis	0	LMNA CL E G H	4000	6636	OMIM:176670	Hutchinson-Gilford progeria syndrome	.	645
HP:0004416	HP:0004416	Precocious atherosclerosis	0	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040281 - Very frequent	178
HP:0004416	HP:0004416	Precocious atherosclerosis	0	TNXB CL E G H	7148	11976	ORPHA:230839	Classical-like Ehlers-Danlos syndrome type 1	HP:0040283 - Occasional	134

Genes (10) :ABCG5 ABCG8 APOA5 APOB CYP27A1 LDLR LDLRAP1 LMNA PCSK9 TNXB

Diseases (6) :ORPHA:391665 OMIM:145750 ORPHA:909 ORPHA:280365 OMIM:176670 ORPHA:230839

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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