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:
Functional motor deficit (HP:0004302)

..Starting node
..Exercise intolerance (HP:0003546)

Term ID:

3546

Name:

Exercise intolerance

Synonym:

Decreased ability to exercise; Inability to exercise; Low exercise endurance; Poor exercise tolerance

Definition:

A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender.

Comments:

Reference:

HP:0003546

Genes and Diseases:

Child Nodes:

Sister Nodes:

Difficulty climbing stairs (HP:0003551)

Difficulty running (HP:0009046)

Difficulty standing (HP:0003698)

Difficulty walking (HP:0002355)

Easy fatigability (HP:0003388)

Frequent falls (HP:0002359)

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:0003546	HP:0003546	Exercise intolerance	0	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency	.	98
HP:0003546	HP:0003546	Exercise intolerance	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	96
HP:0003546	HP:0003546	Exercise intolerance	0	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	208
HP:0003546	HP:0003546	Exercise intolerance	0	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome	.	82
HP:0003546	HP:0003546	Exercise intolerance	0	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040282 - Frequent	74
HP:0003546	HP:0003546	Exercise intolerance	0	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5	.
HP:0003546	HP:0003546	Exercise intolerance	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1	.	72
HP:0003546	HP:0003546	Exercise intolerance	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant		46
HP:0003546	HP:0003546	Exercise intolerance	0	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25	.	2
HP:0003546	HP:0003546	Exercise intolerance	0	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33	.
HP:0003546	HP:0003546	Exercise intolerance	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.	48
HP:0003546	HP:0003546	Exercise intolerance	0	CCDC78 CL E G H	124093	14153	OMIM:614807	Myopathy, centronuclear, 4		25
HP:0003546	HP:0003546	Exercise intolerance	0	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance	HP:0040282 - Frequent	11
HP:0003546	HP:0003546	Exercise intolerance	0	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant	.	11
HP:0003546	HP:0003546	Exercise intolerance	0	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	5
HP:0003546	HP:0003546	Exercise intolerance	0	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type	HP:0040282 - Frequent	5
HP:0003546	HP:0003546	Exercise intolerance	0	COA3 CL E G H	28958	24990	OMIM:619058	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14		2
HP:0003546	HP:0003546	Exercise intolerance	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional	65
HP:0003546	HP:0003546	Exercise intolerance	0	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19	.	6
HP:0003546	HP:0003546	Exercise intolerance	0	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly		110
HP:0003546	HP:0003546	Exercise intolerance	0	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly		110
HP:0003546	HP:0003546	Exercise intolerance	0	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly		137
HP:0003546	HP:0003546	Exercise intolerance	0	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1		89
HP:0003546	HP:0003546	Exercise intolerance	0	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency	HP:0040282 - Frequent	136
HP:0003546	HP:0003546	Exercise intolerance	0	COQ8A CL E G H	56997	16812	OMIM:612016	Coenzyme Q10 deficiency, primary, 4	.	136
HP:0003546	HP:0003546	Exercise intolerance	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0003546	HP:0003546	Exercise intolerance	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0003546	HP:0003546	Exercise intolerance	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0003546	HP:0003546	Exercise intolerance	0	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form	HP:0040281 - Very frequent	101
HP:0003546	HP:0003546	Exercise intolerance	0	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040282 - Frequent	101
HP:0003546	HP:0003546	Exercise intolerance	0	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy	HP:0040283 - Occasional
HP:0003546	HP:0003546	Exercise intolerance	0	DMD CL E G H	1756	2928	ORPHA:98895	Becker muscular dystrophy	HP:0040281 - Very frequent	1496
HP:0003546	HP:0003546	Exercise intolerance	0	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6	.	41
HP:0003546	HP:0003546	Exercise intolerance	0	ENO3 CL E G H	2027	3354	OMIM:612932	Glycogen storage disease XIII	.	34
HP:0003546	HP:0003546	Exercise intolerance	0	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0003546	HP:0003546	Exercise intolerance	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0003546	HP:0003546	Exercise intolerance	0	FLAD1 CL E G H	80308	24671	OMIM:255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	.	18
HP:0003546	HP:0003546	Exercise intolerance	0	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II		407
HP:0003546	HP:0003546	Exercise intolerance	0	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	87
HP:0003546	HP:0003546	Exercise intolerance	0	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	37
HP:0003546	HP:0003546	Exercise intolerance	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	115
HP:0003546	HP:0003546	Exercise intolerance	0	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19	HP:0040283 - Occasional	34
HP:0003546	HP:0003546	Exercise intolerance	0	GMPPB CL E G H	29925	22932	OMIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14	.	34
HP:0003546	HP:0003546	Exercise intolerance	0	GYS1 CL E G H	2997	4706	OMIM:611556	Glycogen storage disease 0, muscle		52
HP:0003546	HP:0003546	Exercise intolerance	0	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040281 - Very frequent	99
HP:0003546	HP:0003546	Exercise intolerance	0	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040281 - Very frequent	60
HP:0003546	HP:0003546	Exercise intolerance	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040282 - Frequent	12
HP:0003546	HP:0003546	Exercise intolerance	0	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type	.	19
HP:0003546	HP:0003546	Exercise intolerance	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	80
HP:0003546	HP:0003546	Exercise intolerance	0	KBTBD13 CL E G H	390594	37227	OMIM:609273	Nemaline myopathy 6	.	80
HP:0003546	HP:0003546	Exercise intolerance	0	KCNE1 CL E G H	3753	6240	ORPHA:90647	Jervell and Lange-Nielsen syndrome		148
HP:0003546	HP:0003546	Exercise intolerance	0	KCNQ1 CL E G H	3784	6294	ORPHA:90647	Jervell and Lange-Nielsen syndrome		730
HP:0003546	HP:0003546	Exercise intolerance	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	13
HP:0003546	HP:0003546	Exercise intolerance	0	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease	.	211
HP:0003546	HP:0003546	Exercise intolerance	0	LDHA CL E G H	3939	6535	OMIM:612933	Glycogen storage disease XI	.	35
HP:0003546	HP:0003546	Exercise intolerance	0	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11	.	11
HP:0003546	HP:0003546	Exercise intolerance	0	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome	HP:0040282 - Frequent	11
HP:0003546	HP:0003546	Exercise intolerance	0	MIEF2 CL E G H	125170	17920	OMIM:619024	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0003546	HP:0003546	Exercise intolerance	0	MLIP CL E G H	90523	21355	OMIM:620138
HP:0003546	HP:0003546	Exercise intolerance	0	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0003546	HP:0003546	Exercise intolerance	0	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	452
HP:0003546	HP:0003546	Exercise intolerance	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	217
HP:0003546	HP:0003546	Exercise intolerance	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0003546	HP:0003546	Exercise intolerance	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0003546	HP:0003546	Exercise intolerance	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0003546	HP:0003546	Exercise intolerance	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0003546	HP:0003546	Exercise intolerance	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1	.	27
HP:0003546	HP:0003546	Exercise intolerance	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	745
HP:0003546	HP:0003546	Exercise intolerance	0	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	90
HP:0003546	HP:0003546	Exercise intolerance	0	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill		13
HP:0003546	HP:0003546	Exercise intolerance	0	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII	.	64
HP:0003546	HP:0003546	Exercise intolerance	0	PGAM2 CL E G H	5224	8889	OMIM:261670	Phosphoglycerate mutase, muscle, deficiency of	.	26
HP:0003546	HP:0003546	Exercise intolerance	0	PGK1 CL E G H	5230	8896	OMIM:300653	Phosphoglycerate kinase 1 deficiency	.	21
HP:0003546	HP:0003546	Exercise intolerance	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0003546	HP:0003546	Exercise intolerance	0	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked	.	54
HP:0003546	HP:0003546	Exercise intolerance	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional	54
HP:0003546	HP:0003546	Exercise intolerance	0	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency		101
HP:0003546	HP:0003546	Exercise intolerance	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional	48
HP:0003546	HP:0003546	Exercise intolerance	0	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy		65
HP:0003546	HP:0003546	Exercise intolerance	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	464
HP:0003546	HP:0003546	Exercise intolerance	0	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional	464
HP:0003546	HP:0003546	Exercise intolerance	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.	464
HP:0003546	HP:0003546	Exercise intolerance	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.	464
HP:0003546	HP:0003546	Exercise intolerance	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0003546	HP:0003546	Exercise intolerance	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	45
HP:0003546	HP:0003546	Exercise intolerance	0	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	.	45
HP:0003546	HP:0003546	Exercise intolerance	0	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0003546	HP:0003546	Exercise intolerance	0	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1	.	57
HP:0003546	HP:0003546	Exercise intolerance	0	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency		71
HP:0003546	HP:0003546	Exercise intolerance	0	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency	HP:0040281 - Very frequent	166
HP:0003546	HP:0003546	Exercise intolerance	0	PYGM CL E G H	5837	9726	OMIM:232600	Glycogen storage disease V		166
HP:0003546	HP:0003546	Exercise intolerance	0	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040281 - Very frequent	3
HP:0003546	HP:0003546	Exercise intolerance	0	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	.	3
HP:0003546	HP:0003546	Exercise intolerance	0	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040281 - Very frequent	125
HP:0003546	HP:0003546	Exercise intolerance	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	125
HP:0003546	HP:0003546	Exercise intolerance	0	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5	.	125
HP:0003546	HP:0003546	Exercise intolerance	0	RSPH4A CL E G H	345895	21558	OMIM:612649	Ciliary dyskinesia, primary, 11	.	58
HP:0003546	HP:0003546	Exercise intolerance	0	RSPH9 CL E G H	221421	21057	OMIM:612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12		20
HP:0003546	HP:0003546	Exercise intolerance	0	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill		1134
HP:0003546	HP:0003546	Exercise intolerance	0	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency	.	304
HP:0003546	HP:0003546	Exercise intolerance	0	SLC18A3 CL E G H	6572	10936	OMIM:617239	Myasthenic syndrome, congenital, 21, presynaptic	.	2
HP:0003546	HP:0003546	Exercise intolerance	0	SLC22A12 CL E G H	116085	17989	ORPHA:94088	Hereditary renal hypouricemia		56
HP:0003546	HP:0003546	Exercise intolerance	0	SLC25A32 CL E G H	81034	29683	OMIM:616839	EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE; RREI		3
HP:0003546	HP:0003546	Exercise intolerance	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	68
HP:0003546	HP:0003546	Exercise intolerance	0	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)	.	68
HP:0003546	HP:0003546	Exercise intolerance	0	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	.	68
HP:0003546	HP:0003546	Exercise intolerance	0	SLC2A9 CL E G H	56606	13446	ORPHA:94088	Hereditary renal hypouricemia		57
HP:0003546	HP:0003546	Exercise intolerance	0	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency	.	73
HP:0003546	HP:0003546	Exercise intolerance	0	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10		1
HP:0003546	HP:0003546	Exercise intolerance	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome	.
HP:0003546	HP:0003546	Exercise intolerance	0	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	20
HP:0003546	HP:0003546	Exercise intolerance	0	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional	103
HP:0003546	HP:0003546	Exercise intolerance	0	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040282 - Frequent	103
HP:0003546	HP:0003546	Exercise intolerance	0	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040283 - Occasional	6
HP:0003546	HP:0003546	Exercise intolerance	0	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	6
HP:0003546	HP:0003546	Exercise intolerance	0	TMEM126B CL E G H	55863	30883	OMIM:618250	Mitochondrial complex I deficiency, nuclear type 29	.	4
HP:0003546	HP:0003546	Exercise intolerance	0	TOP3A CL E G H	7156	11992	OMIM:618098	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5	.
HP:0003546	HP:0003546	Exercise intolerance	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	54
HP:0003546	HP:0003546	Exercise intolerance	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent	108
HP:0003546	HP:0003546	Exercise intolerance	0	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26	.	4
HP:0003546	HP:0003546	Exercise intolerance	0	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus	HP:0040282 - Frequent
HP:0003546	HP:0003546	Exercise intolerance	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0003546	HP:0003546	Exercise intolerance	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0003546	HP:0003546	Exercise intolerance	0	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	HP:0040282 - Frequent
HP:0003546	HP:0003546	Exercise intolerance	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0003546	HP:0003546	Exercise intolerance	0	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0003546	HP:0003546	Exercise intolerance	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0003546	HP:0003546	Exercise intolerance	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0003546	HP:0003546	Exercise intolerance	0	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0003546	HP:0003546	Exercise intolerance	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0003546	HP:0003546	Exercise intolerance	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0003546	HP:0003546	Exercise intolerance	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	113
HP:0003546	HP:0003546	Exercise intolerance	0	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	.	113
HP:0003546	HP:0003546	Exercise intolerance	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0003546	HP:0003546	Exercise intolerance	0	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	.	45
HP:0003546	HP:0030973	Postexertional symptom exacerbation	1	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant		46
HP:0003546	HP:0030973	Postexertional symptom exacerbation	1	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040282 - Frequent	110
HP:0003546	HP:0030973	Postexertional symptom exacerbation	1	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040282 - Frequent	110
HP:0003546	HP:0030973	Postexertional symptom exacerbation	1	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040282 - Frequent	137
HP:0003546	HP:0030973	Postexertional symptom exacerbation	1	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1	HP:0040282 - Frequent	89
HP:0003546	HP:0030973	Postexertional symptom exacerbation	1	KCNE1 CL E G H	3753	6240	ORPHA:90647	Jervell and Lange-Nielsen syndrome	HP:0040282 - Frequent	148
HP:0003546	HP:0030973	Postexertional symptom exacerbation	1	KCNQ1 CL E G H	3784	6294	ORPHA:90647	Jervell and Lange-Nielsen syndrome	HP:0040282 - Frequent	730
HP:0003546	HP:0030973	Postexertional symptom exacerbation	1	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill	HP:0040282 - Frequent	13
HP:0003546	HP:0030973	Postexertional symptom exacerbation	1	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	HP:0040283 - Occasional	71
HP:0003546	HP:0030973	Postexertional symptom exacerbation	1	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency	HP:0040283 - Occasional	166
HP:0003546	HP:0030973	Postexertional symptom exacerbation	1	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill	HP:0040282 - Frequent	1134
HP:0003546	HP:0030973	Postexertional symptom exacerbation	1	SLC22A12 CL E G H	116085	17989	ORPHA:94088	Hereditary renal hypouricemia	HP:0040281 - Very frequent	56
HP:0003546	HP:0030973	Postexertional symptom exacerbation	1	SLC2A9 CL E G H	56606	13446	ORPHA:94088	Hereditary renal hypouricemia	HP:0040281 - Very frequent	57
HP:0003546	HP:0030973	Postexertional symptom exacerbation	1	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10		1

Genes (112) :ACAD9 ACTA1 ACTC1 AGK ALDH4A1 ATP5F1D BCS1L BICD2 BVES C1QBP CAVIN1 CCDC78 CHCHD10 CITED2 COA3 COL12A1 COL13A1 COL9A1 COL9A2 COL9A3 COMP COQ8A COX1 COX2 COX3 CPT2 CYTB DMD DNA2 ENO3 FARSA FARSB FLAD1 GAA GATA4 GATA6 GCDH GMPPB GYS1 HADHA HADHB HINT1 ISCU KBTBD13 KCNE1 KCNQ1 KLHL41 LAMP2 LDHA MGME1 MIEF2 MLIP MRPS2 MYH6 MYPN ND1 ND4 ND5 ND6 NDUFS4 NEB NKX2-5 NPPA PFKM PGAM2 PGK1 PGM1 PHKA1 PHKA2 PHKB PHKG2 PNPLA2 POLG POLG2 POLR2A PUS1 PYGL PYGM RNASEH1 RRM2B RSPH4A RSPH9 SCN5A SDHA SLC18A3 SLC22A12 SLC25A32 SLC25A4 SLC2A9 SURF1 SVIL TAFAZZIN TBX20 TK2 TLL1 TMEM126B TOP3A TPM2 TPM3 TRMT5 TRNE TRNF TRNH TRNK TRNL1 TRNN TRNQ TRNS1 TRNS2 TRNW TWNK YARS2

Diseases (93) :OMIM:611126 ORPHA:171439 ORPHA:99103 OMIM:212350 ORPHA:79101 OMIM:618120 OMIM:124000 OMIM:615290 OMIM:616812 OMIM:617713 OMIM:613327 OMIM:614807 ORPHA:457050 OMIM:616209 ORPHA:99105 OMIM:619058 ORPHA:536516 OMIM:616720 ORPHA:166002 ORPHA:93308 ORPHA:139485 OMIM:612016 ORPHA:550 ORPHA:228302 ORPHA:228305 ORPHA:137675 ORPHA:98895 OMIM:615156 OMIM:612932 OMIM:619013 OMIM:613658 OMIM:255100 OMIM:232300 ORPHA:25 ORPHA:363623 OMIM:615352 OMIM:611556 ORPHA:746 ORPHA:324442 OMIM:255125 OMIM:609273 ORPHA:90647 OMIM:300257 OMIM:612933 OMIM:615084 ORPHA:352447 OMIM:619024 OMIM:620138 OMIM:617950 OMIM:252010 ORPHA:1344 OMIM:232800 OMIM:261670 OMIM:300653 OMIM:614921 OMIM:300559 ORPHA:264580 ORPHA:79240 OMIM:610717 ORPHA:254892 ORPHA:254886 OMIM:157640 OMIM:258450 OMIM:607459 OMIM:610131 OMIM:618603 OMIM:600462 ORPHA:369 ORPHA:368 OMIM:232600 ORPHA:329336 OMIM:616479 OMIM:613077 OMIM:612649 OMIM:612650 OMIM:252011 OMIM:617239 ORPHA:94088 OMIM:616839 OMIM:615418 OMIM:609283 OMIM:220110 OMIM:619040 OMIM:302060 ORPHA:254875 ORPHA:99106 OMIM:618250 OMIM:618098 OMIM:616539 ORPHA:2596 ORPHA:1349 OMIM:609286 OMIM:613561

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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