Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 fibroelastosis (HP:0001706)

Term ID:

1706

Name:

Endocardial fibroelastosis

Synonym:

Definition:

Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction

Comments:

Reference:

HP:0001706

Genes and Diseases:

Child Nodes:

Sister Nodes:

Endocardial fibrosis (HP:0006685)

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:0001706	HP:0001706	Endocardial fibroelastosis	0	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction		307
HP:0001706	HP:0001706	Endocardial fibroelastosis	0	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27		89
HP:0001706	HP:0001706	Endocardial fibroelastosis	0	CSRP3 CL E G H	8048	2472	OMIM:607482	CARDIOMYOPATHY, DILATED, 1M; CMD1M		104
HP:0001706	HP:0001706	Endocardial fibroelastosis	0	GJA5 CL E G H	2702	4279	OMIM:108770	Atrial standstill 1	.	39
HP:0001706	HP:0001706	Endocardial fibroelastosis	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040283 - Occasional	115
HP:0001706	HP:0001706	Endocardial fibroelastosis	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome		115
HP:0001706	HP:0001706	Endocardial fibroelastosis	0	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001706	HP:0001706	Endocardial fibroelastosis	0	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary	.	207
HP:0001706	HP:0001706	Endocardial fibroelastosis	0	TAFAZZIN CL E G H	6901	11577	ORPHA:111	Barth syndrome	HP:0040282 - Frequent
HP:0001706	HP:0001706	Endocardial fibroelastosis	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome	.

Genes (8) :ACTN2 ALPK3 CSRP3 GJA5 IDUA MCM10 SLC22A5 TAFAZZIN

Diseases (10) :OMIM:612158 OMIM:618052 OMIM:607482 OMIM:108770 ORPHA:93473 OMIM:607014 OMIM:619313 OMIM:212140 ORPHA:111 OMIM:302060

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

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