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
..Generalized arterial calcification (HP:0004940)

Term ID:

4940

Name:

Generalized arterial calcification

Synonym:

Generalised arterial calcification

Definition:

Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body.

Comments:

Reference:

HP:0004940

Genes and Diseases:

Child Nodes:

Sister Nodes:

Calcification of the aorta (HP:0004963)

Carotid artery calcification (HP:0031314)

Coronary artery calcification (HP:0001717)

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:0004940	HP:0004940	Generalized arterial calcification	0	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1	.	151

Genes (1) :ENPP1

Diseases (1) :OMIM:208000

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