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:
Abnormal coronary artery morphology (HP:0006704)

..Starting node
..Coronary artery aneurysm (HP:0030882)

Term ID:

30882

Name:

Coronary artery aneurysm

Synonym:

Coronary arterial dilatation; Coronary artery dilatation; Coronary artery ectasia

Definition:

Enlargement of the diameter (cross-section) of a coronary artery as defined by a focal dilation of a segment at least 1.5 times larger than the reference vessel.

Comments:

Reference:

HP:0030882

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal coronary artery course (HP:0011686)

Abnormal coronary artery origin (HP:0011636)

Coronary artery atherosclerosis (HP:0001677)

Coronary artery calcification (HP:0001717)

Coronary artery dissection (HP:0006702)

Coronary artery stenosis (HP:0005145)

Granulomatous coronary arteritis (HP:0006679)

Intimal thickening in the coronary arteries (HP:0005292)

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:0030882	HP:0030882	Coronary artery aneurysm	0	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040284 - Very rare	67
HP:0030882	HP:0030882	Coronary artery aneurysm	0	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040284 - Very rare	76
HP:0030882	HP:0030882	Coronary artery aneurysm	0	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040284 - Very rare	356
HP:0030882	HP:0030882	Coronary artery aneurysm	0	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040284 - Very rare	2157
HP:0030882	HP:0030882	Coronary artery aneurysm	0	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040284 - Very rare	73
HP:0030882	HP:0030882	Coronary artery aneurysm	0	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040284 - Very rare	178
HP:0030882	HP:0030882	Coronary artery aneurysm	0	PRKG1 CL E G H	5592	9414	OMIM:615436	AORTIC ANEURYSM, FAMILIAL THORACIC 8; AAT8		41

Genes (7) :ABCG5 ABCG8 APOB LDLR LDLRAP1 PCSK9 PRKG1

Diseases (2) :ORPHA:391665 OMIM:615436

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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