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 myocardium morphology (HP:0001637)

..Starting node
..Myocarditis (HP:0012819)

Term ID:

12819

Name:

Myocarditis

Synonym:

Inflammation of heart muscle

Definition:

Inflammation of the myocardium.

Comments:

Reference:

HP:0012819

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal morphology of myocardial trabeculae (HP:0030681)

Abnormal ventricular myocardium morphology (HP:0031316)

Cardiac amyloidosis (HP:0030843)

Cardiomyopathy (HP:0001638)

Fatty replacement of ventricular myocardial tissue (HP:0031317)

Focal necrosis of right ventricular muscle cells (HP:0003338)

Myocardial fibrosis (HP:0001685)

Myocardial immune cell infiltration (HP:0031321)

Myocardial necrosis (HP:0001700)

Myofiber disarray (HP:0031318)

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:0012819	HP:0012819	Myocarditis	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040284 - Very rare	1
HP:0012819	HP:0012819	Myocarditis	0	GPX4 CL E G H	2879	4556	ORPHA:93317	Spondylometaphyseal dysplasia, Sedaghatian type	HP:0040283 - Occasional	3
HP:0012819	HP:0012819	Myocarditis	0	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type	.	3
HP:0012819	HP:0012819	Myocarditis	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040283 - Occasional	1
HP:0012819	HP:0012819	Myocarditis	0	PPA2 CL E G H	27068	28883	OMIM:617222	Sudden cardiac failure, infantile	.	8
HP:0012819	HP:0012819	Myocarditis	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional	178
HP:0012819	HP:0012819	Myocarditis	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040284 - Very rare	490

Genes (6) :CCND1 GPX4 IRF4 PPA2 SLC2A10 VHL

Diseases (6) :ORPHA:892 ORPHA:93317 OMIM:250220 ORPHA:3452 OMIM:617222 ORPHA:3342

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