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)

Grandparent Node:
Vascular calcification (HP:0004934)

Parent Node:
Abnormal coronary artery morphology (HP:0006704)

Parent Node:
Arterial calcification (HP:0003207)

..Starting node
..Coronary artery calcification (HP:0001717)

Term ID:

1717

Name:

Coronary artery calcification

Synonym:

Definition:

An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a coronary artery.

Comments:

Reference:

HP:0001717

Genes and Diseases:

Child Nodes:

Sister Nodes:

Calcification of the aorta (HP:0004963)

Carotid artery calcification (HP:0031314)

Generalized arterial calcification (HP:0004940)

Intracranial arterial calcification (HP:0031306)

Medial arterial calcification (HP:0012456)

Peripheral arterial calcification (HP:0031301)

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:0001717	HP:0001717	Coronary artery calcification	0	ABCC6 CL E G H	368	57	OMIM:614473	Arterial calcification, generalized, of infancy, 2	.	415
HP:0001717	HP:0001717	Coronary artery calcification	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040282 - Frequent	415
HP:0001717	HP:0001717	Coronary artery calcification	0	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1	.	151
HP:0001717	HP:0001717	Coronary artery calcification	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040282 - Frequent	151
HP:0001717	HP:0001717	Coronary artery calcification	0	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria	.	77
HP:0001717	HP:0001717	Coronary artery calcification	0	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria	HP:0040281 - Very frequent	77
HP:0001717	HP:0001717	Coronary artery calcification	0	NT5E CL E G H	4907	8021	OMIM:211800	Calcification of joints and arteries		3
HP:0001717	HP:0001717	Coronary artery calcification	0	NT5E CL E G H	4907	8021	ORPHA:289601	Hereditary arterial and articular multiple calcification syndrome	HP:0040283 - Occasional	3

Genes (4) :ABCC6 ENPP1 HGD NT5E

Diseases (7) :OMIM:614473 ORPHA:51608 OMIM:208000 OMIM:203500 ORPHA:56 OMIM:211800 ORPHA:289601

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