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 endocardium morphology (HP:0004306)

..Starting node
..Endocardial fibrosis (HP:0006685)

Term ID:

6685

Name:

Endocardial fibrosis

Synonym:

Endomyocardial fibrosis

Definition:

The presence of excessive connective tissue in the endocardium.

Comments:

Reference:

HP:0006685

Genes and Diseases:

Child Nodes:

Sister Nodes:

Endocardial fibroelastosis (HP:0001706)

Endocarditis (HP:0100584)

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:0006685	HP:0006685	Endocardial fibrosis	0	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction	.	307
HP:0006685	HP:0006685	Endocardial fibrosis	0	LDB3 CL E G H	11155	15710	OMIM:601493	Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction	.	286
HP:0006685	HP:0006685	Endocardial fibrosis	0	MYL3 CL E G H	4634	7584	OMIM:608751	Cardiomyopathy, familial hypertrophic, 8		95
HP:0006685	HP:0006685	Endocardial fibrosis	0	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic	.	337
HP:0006685	HP:0006685	Endocardial fibrosis	0	SP110 CL E G H	3431	5401	OMIM:235550	Hepatic venoocclusive disease with immunodeficiency	.	49
HP:0006685	HP:0006685	Endocardial fibrosis	0	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15	.	248

Genes (6) :ACTN2 LDB3 MYL3 PDGFRA SP110 VCL

Diseases (6) :OMIM:612158 OMIM:601493 OMIM:608751 OMIM:607685 OMIM:235550 OMIM:613255

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