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:
Constitutional symptom (HP:0025142)

Parent Node:
Fatigue (HP:0012378)

..Starting node
..Postexertional symptom exacerbation (HP:0030973)

Term ID:

30973

Name:

Postexertional symptom exacerbation

Synonym:

Exercise-induced malaise; Postexertional malaise

Definition:

Post-exertional symptom exacerbation (PESE), also referred to as post-exertional malaise (PEM), is defined as the worsening of symptoms that can follow minimal cognitive, physical, emotional, or social activity, or activity that could previously be tolerated. Symptoms typically worsen 12 to 72 hours after activity and can last for days or even weeks, sometimes leading to a relapse.

Comments:

Reference:

HP:0030973

Genes and Diseases:

Child Nodes:

Sister Nodes:

Chronic fatigue (HP:0012432)

Episodic fatigue (HP:0012431)

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:0030973	HP:0030973	Postexertional symptom exacerbation	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant		46
HP:0030973	HP:0030973	Postexertional symptom exacerbation	0	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040282 - Frequent	110
HP:0030973	HP:0030973	Postexertional symptom exacerbation	0	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040282 - Frequent	110
HP:0030973	HP:0030973	Postexertional symptom exacerbation	0	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040282 - Frequent	137
HP:0030973	HP:0030973	Postexertional symptom exacerbation	0	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1	HP:0040282 - Frequent	89
HP:0030973	HP:0030973	Postexertional symptom exacerbation	0	KCNE1 CL E G H	3753	6240	ORPHA:90647	Jervell and Lange-Nielsen syndrome	HP:0040282 - Frequent	148
HP:0030973	HP:0030973	Postexertional symptom exacerbation	0	KCNQ1 CL E G H	3784	6294	ORPHA:90647	Jervell and Lange-Nielsen syndrome	HP:0040282 - Frequent	730
HP:0030973	HP:0030973	Postexertional symptom exacerbation	0	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill	HP:0040282 - Frequent	13
HP:0030973	HP:0030973	Postexertional symptom exacerbation	0	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	HP:0040283 - Occasional	71
HP:0030973	HP:0030973	Postexertional symptom exacerbation	0	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency	HP:0040283 - Occasional	166
HP:0030973	HP:0030973	Postexertional symptom exacerbation	0	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill	HP:0040282 - Frequent	1134
HP:0030973	HP:0030973	Postexertional symptom exacerbation	0	SLC22A12 CL E G H	116085	17989	ORPHA:94088	Hereditary renal hypouricemia	HP:0040281 - Very frequent	56
HP:0030973	HP:0030973	Postexertional symptom exacerbation	0	SLC2A9 CL E G H	56606	13446	ORPHA:94088	Hereditary renal hypouricemia	HP:0040281 - Very frequent	57
HP:0030973	HP:0030973	Postexertional symptom exacerbation	0	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10		1

Genes (14) :BICD2 COL9A1 COL9A2 COL9A3 COMP KCNE1 KCNQ1 NPPA PYGL PYGM SCN5A SLC22A12 SLC2A9 SVIL

Diseases (9) :OMIM:615290 ORPHA:166002 ORPHA:93308 ORPHA:90647 ORPHA:1344 ORPHA:369 ORPHA:368 ORPHA:94088 OMIM:619040

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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