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:
Peripheral arterial calcification (HP:0031301)

Parent Node:
Lower extremity peripheral arterial calcification (HP:0031302)

..Starting node
..Tibial arterial calcification (HP:0031305)

Term ID:

31305

Name:

Tibial arterial calcification

Synonym:

Definition:

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

Comments:

Reference:

HP:0031305

Genes and Diseases:

Child Nodes:

Sister Nodes:

Femoral arterial calcification (HP:0031303)

Iliac arterial calcification (HP:0031304)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031305	HP:0031305	Tibial arterial calcification	0	NT5E CL E G H	4907	8021	OMIM:211800	Calcification of joints and arteries	3

Genes (1) :NT5E

Diseases (1) :OMIM:211800

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