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 echocardiogram (HP:0003116)

Grandparent Node:
Left ventricular systolic dysfunction (HP:0025169)

Parent Node:
Reduced left ventricular ejection fraction (HP:0012664)

..Starting node
..Severely reduced left ventricular ejection fraction (HP:0012666)

Term ID:

12666

Name:

Severely reduced left ventricular ejection fraction

Synonym:

Severely reduced ejection fraction

Definition:

A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent.

Comments:

Reference:

HP:0012666

Genes and Diseases:

Child Nodes:

Sister Nodes:

Mildly reduced left ventricular ejection fraction (HP:0012663)

Moderately reduced left ventricular ejection fraction (HP:0012665)

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:0012666	HP:0012666	Severely reduced left ventricular ejection fraction	0	BAG5 CL E G H	9529	941	OMIM:619747	CARDIOMYOPATHY, DILATED, 2F; CMD2F
HP:0012666	HP:0012666	Severely reduced left ventricular ejection fraction	0	DSG2 CL E G H	1829	3049	OMIM:612877	CARDIOMYOPATHY, DILATED, 1BB; CMD1BB		358
HP:0012666	HP:0012666	Severely reduced left ventricular ejection fraction	0	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23	HP:0040283 - Occasional	30
HP:0012666	HP:0012666	Severely reduced left ventricular ejection fraction	0	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0012666	HP:0012666	Severely reduced left ventricular ejection fraction	0	MYH6 CL E G H	4624	7576	OMIM:613251	Cardiomyopathy, familial hypertrophic, 14		452
HP:0012666	HP:0012666	Severely reduced left ventricular ejection fraction	0	PSEN1 CL E G H	5663	9508	OMIM:613694	Cardiomyopathy, dilated, 1U		241
HP:0012666	HP:0012666	Severely reduced left ventricular ejection fraction	0	TNNI3 CL E G H	7137	11947	OMIM:613286	Cardiomyopathy, dilated, 1ff		180

Genes (7) :BAG5 DSG2 GTPBP3 LMOD2 MYH6 PSEN1 TNNI3

Diseases (7) :OMIM:619747 OMIM:612877 ORPHA:444013 OMIM:619897 OMIM:613251 OMIM:613694 OMIM:613286

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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