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

..Starting node
..Fibrofatty replacement of right ventricular myocardium (HP:0034364)

Term ID:

34364

Name:

Fibrofatty replacement of right ventricular myocardium

Synonym:

Definition:

Replacement of the myocardium of the right ventricular free wall by fat and fibrous tissue.

Comments:

Reference:

HP:0034364

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0034364	HP:0034364	Fibrofatty replacement of right ventricular myocardium	0	PKP2 CL E G H	5318	9024	OMIM:609040	Arrhythmogenic right ventricular dysplasia, familial, 9	406

Genes (1) :PKP2

Diseases (1) :OMIM:609040

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