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)

Parent Node:
Arteriosclerosis (HP:0002634)

..Starting node
..Premature arteriosclerosis (HP:0005177)

Term ID:

5177

Name:

Premature arteriosclerosis

Synonym:

Premature hardening of arteries

Definition:

Arteriosclerosis occurring at an age that is younger than usual.

Comments:

Reference:

HP:0005177

Genes and Diseases:

Child Nodes:

Sister Nodes:

Arteriosclerosis of small cerebral arteries (HP:0004931)

Atherosclerosis (HP:0002621)

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:0005177	HP:0005177	Premature arteriosclerosis	0	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040281 - Very frequent	67
HP:0005177	HP:0005177	Premature arteriosclerosis	0	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040281 - Very frequent	76
HP:0005177	HP:0005177	Premature arteriosclerosis	0	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040281 - Very frequent	356
HP:0005177	HP:0005177	Premature arteriosclerosis	0	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040281 - Very frequent	2157
HP:0005177	HP:0005177	Premature arteriosclerosis	0	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040281 - Very frequent	73
HP:0005177	HP:0005177	Premature arteriosclerosis	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0005177	HP:0005177	Premature arteriosclerosis	0	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040281 - Very frequent	178
HP:0005177	HP:0005177	Premature arteriosclerosis	0	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome	.	310

Genes (8) :ABCG5 ABCG8 APOB LDLR LDLRAP1 LMNA PCSK9 WRN

Diseases (3) :ORPHA:391665 ORPHA:79474 OMIM:277700

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