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:
Arterial calcification (HP:0003207)

..Starting node
..Medial arterial calcification (HP:0012456)

Term ID:

12456

Name:

Medial arterial calcification

Synonym:

Definition:

Calcification, that is, pathological deposition of calcium salts in the tunica media of arteries.

Comments:

Reference:

HP:0012456

Genes and Diseases:

Child Nodes:

........

Medial calcification of large arteries (HP:0004966)

........

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

........

Medial calcification of small arteries (HP:0012458)

Sister Nodes:

Calcification of the aorta (HP:0004963)

Carotid artery calcification (HP:0031314)

Coronary artery calcification (HP:0001717)

Generalized arterial calcification (HP:0004940)

Intracranial arterial calcification (HP:0031306)

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:0012456	HP:0012456	Medial arterial calcification	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy		415
HP:0012456	HP:0012456	Medial arterial calcification	0	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste		415
HP:0012456	HP:0012456	Medial arterial calcification	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy		151
HP:0012456	HP:0012456	Medial arterial calcification	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0012456	HP:0012456	Medial arterial calcification	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0012456	HP:0012458	Medial calcification of small arteries	1	CL E G H
HP:0012456	HP:0012457	Medial calcification of medium-sized arteries	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040282 - Frequent	415
HP:0012456	HP:0004966	Medial calcification of large arteries	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040282 - Frequent	415
HP:0012456	HP:0004966	Medial calcification of large arteries	1	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste	.	415
HP:0012456	HP:0012457	Medial calcification of medium-sized arteries	1	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste	.	415
HP:0012456	HP:0012457	Medial calcification of medium-sized arteries	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040282 - Frequent	151
HP:0012456	HP:0004966	Medial calcification of large arteries	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040282 - Frequent	151
HP:0012456	HP:0004966	Medial calcification of large arteries	1	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional	89
HP:0012456	HP:0004966	Medial calcification of large arteries	1	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional

Genes (4) :ABCC6 ENPP1 STAT1 TOM1

Diseases (3) :ORPHA:51608 OMIM:177850 ORPHA:391487

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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