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 cardiovascular system physiology (HP:0011025)

Parent Node:
Congestive heart failure (HP:0001635)

..Starting node
..Reduced systolic function (HP:0006673)

Term ID:

6673

Name:

Reduced systolic function

Synonym:

Definition:

Comments:

Reference:

HP:0006673

Genes and Diseases:

Child Nodes:

........

Global systolic dysfunction (HP:0005185)

........

Impaired myocardial contractility (HP:0006670)

Sister Nodes:

High-output congestive heart failure (HP:0001722)

Low-output congestive heart failure (HP:0009805)

obsolete Restrictive heart failure (HP:0005130)

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:0006673	HP:0006673	Reduced systolic function	0	ABCC9 CL E G H	10060	60	OMIM:608569	CARDIOMYOPATHY, DILATED, 1O; CMD1O		254
HP:0006673	HP:0006673	Reduced systolic function	0	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27		89
HP:0006673	HP:0006673	Reduced systolic function	0	CASQ2 CL E G H	845	1513	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1		129
HP:0006673	HP:0006673	Reduced systolic function	0	CSRP3 CL E G H	8048	2472	OMIM:607482	CARDIOMYOPATHY, DILATED, 1M; CMD1M		104
HP:0006673	HP:0006673	Reduced systolic function	0	DES CL E G H	1674	2770	OMIM:604765	CARDIOMYOPATHY, DILATED, 1I; CMD1I		263
HP:0006673	HP:0006673	Reduced systolic function	0	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder		747
HP:0006673	HP:0006673	Reduced systolic function	0	JPH2 CL E G H	57158	14202	OMIM:619492	CARDIOMYOPATHY, DILATED, 2E; CMD2E		111
HP:0006673	HP:0006673	Reduced systolic function	0	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder		222
HP:0006673	HP:0006673	Reduced systolic function	0	LIMS2 CL E G H	55679	16084	OMIM:616827	Muscular dystrophy, limb-girdle, type 2W		10
HP:0006673	HP:0006673	Reduced systolic function	0	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	217
HP:0006673	HP:0006673	Reduced systolic function	0	PLN CL E G H	5350	9080	OMIM:609909	Cardiomyopathy, dilated, 1P	.	57
HP:0006673	HP:0006673	Reduced systolic function	0	RYR2 CL E G H	6262	10484	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1		1103
HP:0006673	HP:0006673	Reduced systolic function	0	SCN5A CL E G H	6331	10593	OMIM:601154	Cardiomyopathy, dilated, 1E	.	1134
HP:0006673	HP:0006673	Reduced systolic function	0	SGCD CL E G H	6444	10807	OMIM:606685	CARDIOMYOPATHY, DILATED, 1L; CMD1L		223
HP:0006673	HP:0006673	Reduced systolic function	0	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0006673	HP:0006673	Reduced systolic function	0	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	54
HP:0006673	HP:0006673	Reduced systolic function	0	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	108
HP:0006673	HP:0006673	Reduced systolic function	0	TRDN CL E G H	10345	12261	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1		145
HP:0006673	HP:0005185	Global systolic dysfunction	1	CL E G H
HP:0006673	HP:0006670	Impaired myocardial contractility	1	ABCC9 CL E G H	10060	60	OMIM:608569	CARDIOMYOPATHY, DILATED, 1O; CMD1O		254
HP:0006673	HP:0006670	Impaired myocardial contractility	1	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27		89
HP:0006673	HP:0006670	Impaired myocardial contractility	1	CSRP3 CL E G H	8048	2472	OMIM:607482	CARDIOMYOPATHY, DILATED, 1M; CMD1M		104
HP:0006673	HP:0006670	Impaired myocardial contractility	1	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040283 - Occasional	747
HP:0006673	HP:0006670	Impaired myocardial contractility	1	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040283 - Occasional	222

Genes (18) :ABCC9 ALPK3 CASQ2 CSRP3 DES DSP JPH2 JUP LIMS2 MYPN PLN RYR2 SCN5A SGCD TKFC TPM2 TPM3 TRDN

Diseases (13) :OMIM:608569 OMIM:618052 OMIM:604772 OMIM:607482 OMIM:604765 ORPHA:158687 OMIM:619492 OMIM:616827 ORPHA:171881 OMIM:609909 OMIM:601154 OMIM:606685 OMIM:618805

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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