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:
Congestive heart failure (HP:0001635)

Parent Node:
Reduced systolic function (HP:0006673)

..Starting node
..Impaired myocardial contractility (HP:0006670)

Term ID:

6670

Name:

Impaired myocardial contractility

Synonym:

Definition:

Comments:

Reference:

HP:0006670

Genes and Diseases:

Child Nodes:

Sister Nodes:

Global systolic dysfunction (HP:0005185)

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:0006670	HP:0006670	Impaired myocardial contractility	0	ABCC9 CL E G H	10060	60	OMIM:608569	CARDIOMYOPATHY, DILATED, 1O; CMD1O		254
HP:0006670	HP:0006670	Impaired myocardial contractility	0	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27		89
HP:0006670	HP:0006670	Impaired myocardial contractility	0	CSRP3 CL E G H	8048	2472	OMIM:607482	CARDIOMYOPATHY, DILATED, 1M; CMD1M		104
HP:0006670	HP:0006670	Impaired myocardial contractility	0	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040283 - Occasional	747
HP:0006670	HP:0006670	Impaired myocardial contractility	0	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040283 - Occasional	222

Genes (5) :ABCC9 ALPK3 CSRP3 DSP JUP

Diseases (4) :OMIM:608569 OMIM:618052 OMIM:607482 ORPHA:158687

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