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 heart morphology (HP:0001627)

Parent Node:
Abnormal pericardium morphology (HP:0001697)

..Starting node
..Pericardial constriction (HP:0005132)

Term ID:

5132

Name:

Pericardial constriction

Synonym:

Definition:

Compression of the heart caused by rigid, thickened, or fused pericardial membranes.

Comments:

Reference:

HP:0005132

Genes and Diseases:

Child Nodes:

Sister Nodes:

Congenital defect of the pericardium (HP:0011628)

Pericardial effusion (HP:0001698)

Pericardial lymphangiectasia (HP:0005183)

Pericardial mesothelioma (HP:0100004)

Pericarditis (HP:0001701)

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:0005132	HP:0005132	Pericardial constriction	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism	78

Genes (1) :TRIM37

Diseases (1) :OMIM:253250

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