Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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:
Abnormal coronary artery morphology (HP:0006704)

Grandparent Node:
Arterial stenosis (HP:0100545)

Grandparent Node:
Atherosclerosis (HP:0002621)

Parent Node:
Coronary artery atherosclerosis (HP:0001677)

..Starting node
..Premature coronary artery atherosclerosis (HP:0005181)

Term ID:

5181

Name:

Premature coronary artery atherosclerosis

Synonym:

Premature coronary artery disease

Definition:

Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45.

Comments:

Reference:

HP:0005181

Genes and Diseases:

Child Nodes:

Sister Nodes:

Nonocclusive coronary artery atherosclerosis (HP:0012436)

Post-angioplasty coronary artery restenosis (HP:0004761)

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:0005181	HP:0005181	Premature coronary artery atherosclerosis	0	ABCA1 CL E G H	19	29	ORPHA:425	Apolipoprotein A-I deficiency		191
HP:0005181	HP:0005181	Premature coronary artery atherosclerosis	0	ABCA1 CL E G H	19	29	OMIM:604091	HYPOALPHALIPOPROTEINEMIA, PRIMARY		191
HP:0005181	HP:0005181	Premature coronary artery atherosclerosis	0	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	67
HP:0005181	HP:0005181	Premature coronary artery atherosclerosis	0	ABCG5 CL E G H	64240	13886	OMIM:618666	SITOSTEROLEMIA 2; STSL2		67
HP:0005181	HP:0005181	Premature coronary artery atherosclerosis	0	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	76
HP:0005181	HP:0005181	Premature coronary artery atherosclerosis	0	ACTA2 CL E G H	59	130	OMIM:611788	AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6		94
HP:0005181	HP:0005181	Premature coronary artery atherosclerosis	0	APOA1 CL E G H	335	600	ORPHA:425	Apolipoprotein A-I deficiency		40
HP:0005181	HP:0005181	Premature coronary artery atherosclerosis	0	APOA1 CL E G H	335	600	OMIM:618463	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2		40
HP:0005181	HP:0005181	Premature coronary artery atherosclerosis	0	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	356
HP:0005181	HP:0005181	Premature coronary artery atherosclerosis	0	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia	HP:0040283 - Occasional	39
HP:0005181	HP:0005181	Premature coronary artery atherosclerosis	0	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure		1
HP:0005181	HP:0005181	Premature coronary artery atherosclerosis	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional	114
HP:0005181	HP:0005181	Premature coronary artery atherosclerosis	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent	199
HP:0005181	HP:0005181	Premature coronary artery atherosclerosis	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent	55
HP:0005181	HP:0005181	Premature coronary artery atherosclerosis	0	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0005181	HP:0005181	Premature coronary artery atherosclerosis	0	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	2157
HP:0005181	HP:0005181	Premature coronary artery atherosclerosis	0	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	73
HP:0005181	HP:0005181	Premature coronary artery atherosclerosis	0	LIPC CL E G H	3990	6619	ORPHA:140905	Hyperlipidemia due to hepatic triacylglycerol lipase deficiency	HP:0040282 - Frequent	35
HP:0005181	HP:0005181	Premature coronary artery atherosclerosis	0	LMNA CL E G H	4000	6636	OMIM:176670	Hutchinson-Gilford progeria syndrome	.	645
HP:0005181	HP:0005181	Premature coronary artery atherosclerosis	0	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2		26
HP:0005181	HP:0005181	Premature coronary artery atherosclerosis	0	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	178

Genes (18) :ABCA1 ABCG5 ABCG8 ACTA2 APOA1 APOB APOE CEP19 CYP27A1 ERCC6 ERCC8 GPIHBP1 LDLR LDLRAP1 LIPC LMNA LRP6 PCSK9

Diseases (14) :ORPHA:425 OMIM:604091 ORPHA:391665 OMIM:618666 OMIM:611788 OMIM:618463 ORPHA:412 OMIM:615703 ORPHA:909 ORPHA:90324 OMIM:615947 ORPHA:140905 OMIM:176670 OMIM:610947

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen