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:
Arterial calcification (HP:0003207)

Parent Node:
Medial arterial calcification (HP:0012456)

..Starting node
..Medial calcification of medium-sized arteries (HP:0012457)

Term ID:

12457

Name:

Medial calcification of medium-sized arteries

Synonym:

Definition:

Calcification, that is, pathological deposition of calcium salts in the tunica media of medium-sized (muscular or distributive) arteries.

Comments:

Reference:

HP:0012457

Genes and Diseases:

Child Nodes:

Sister Nodes:

Medial calcification of large arteries (HP:0004966)

Medial calcification of small arteries (HP:0012458)

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:0012457	HP:0012457	Medial calcification of medium-sized arteries	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040282 - Frequent	415
HP:0012457	HP:0012457	Medial calcification of medium-sized arteries	0	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste	.	415
HP:0012457	HP:0012457	Medial calcification of medium-sized arteries	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040282 - Frequent	151

Genes (2) :ABCC6 ENPP1

Diseases (2) :ORPHA:51608 OMIM:177850

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