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:
Abnormality of cardiovascular system morphology (HP:0030680)

Grandparent Node:
Ectopic calcification (HP:0010766)

Parent Node:
Abnormal cardiac ventricle morphology (HP:0001713)

Parent Node:
Cardiovascular calcification (HP:0011915)

..Starting node
..Myocardial calcification (HP:0006690)

Term ID:

6690

Name:

Myocardial calcification

Synonym:

Calcified myocardium

Definition:

Calcium deposition in the myocardium.

Comments:

Reference:

HP:0006690

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cardiac valve calcification (HP:0005146)

Vascular calcification (HP:0004934)

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:0006690	HP:0006690	Myocardial calcification	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare	415
HP:0006690	HP:0006690	Myocardial calcification	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare	151

Genes (2) :ABCC6 ENPP1

Diseases (1) :ORPHA:51608

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