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 muscle physiology (HP:0011804)

Parent Node:
Increased muscle fatiguability (HP:0003750)

..Starting node
..Exercise-induced muscle fatigue (HP:0009020)

Term ID:

9020

Name:

Exercise-induced muscle fatigue

Synonym:

Definition:

An abnormally increased tendency towards muscle fatigue induced by physical exercise.

Comments:

Reference:

HP:0009020

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0009020	HP:0009020	Exercise-induced muscle fatigue	0	AMPD1 CL E G H	270	468	ORPHA:45	Adenosine monophosphate deaminase deficiency	HP:0040281 - Very frequent	62
HP:0009020	HP:0009020	Exercise-induced muscle fatigue	0	AMPD3 CL E G H	272	470	ORPHA:45	Adenosine monophosphate deaminase deficiency	HP:0040281 - Very frequent	65
HP:0009020	HP:0009020	Exercise-induced muscle fatigue	0	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis	HP:0040282 - Frequent	247
HP:0009020	HP:0009020	Exercise-induced muscle fatigue	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040282 - Frequent	247
HP:0009020	HP:0009020	Exercise-induced muscle fatigue	0	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency	HP:0040282 - Frequent	80
HP:0009020	HP:0009020	Exercise-induced muscle fatigue	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040282 - Frequent
HP:0009020	HP:0009020	Exercise-induced muscle fatigue	0	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis	HP:0040282 - Frequent	73
HP:0009020	HP:0009020	Exercise-induced muscle fatigue	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040282 - Frequent	10
HP:0009020	HP:0009020	Exercise-induced muscle fatigue	0	PGK1 CL E G H	5230	8896	ORPHA:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	HP:0040282 - Frequent	21
HP:0009020	HP:0009020	Exercise-induced muscle fatigue	0	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis	HP:0040282 - Frequent	263
HP:0009020	HP:0009020	Exercise-induced muscle fatigue	0	SLC16A1 CL E G H	6566	10922	OMIM:245340	Erythrocyte lactate transporter defect	.	74
HP:0009020	HP:0009020	Exercise-induced muscle fatigue	0	TRAPPC11 CL E G H	60684	25751	ORPHA:369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome	HP:0040282 - Frequent	27

Genes (11) :AMPD1 AMPD3 CACNA1S DBH GABRA3 KCNE3 KCNJ18 PGK1 SCN4A SLC16A1 TRAPPC11

Diseases (7) :ORPHA:45 ORPHA:681 ORPHA:79102 ORPHA:230 ORPHA:713 OMIM:245340 ORPHA:369847

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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