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	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0003546	HP:0003546	Exercise intolerance	0	ACAD9 CL E G H	28976	611126	Acyl-CoA dehydrogenase family, member 9, deficiency of	611126	C1970173	OMIM	1	771	21497	611103
HP:0003546	HP:0003546	Exercise intolerance	0	ACTA1 CL E G H	58	171439				ORPHA	1	506	129	102610
HP:0003546	HP:0003546	Exercise intolerance	0	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0003546	HP:0003546	Exercise intolerance	0	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	197	20492	616003
HP:0003546	HP:0003546	Exercise intolerance	0	ATP5F1D CL E G H	513	618120	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5	618120	CN253835	OMIM	1	122	837	603150
HP:0003546	HP:0003546	Exercise intolerance	0	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1	413	1020	603647
HP:0003546	HP:0003546	Exercise intolerance	0	C1QBP CL E G H	708	617713	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	617713	C4540209	OMIM	1	137	1243	601269
HP:0003546	HP:0003546	Exercise intolerance	0	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	128	9688	603198
HP:0003546	HP:0003546	Exercise intolerance	0	CHCHD10 CL E G H	400916	457050				ORPHA	1	297	15559	615903
HP:0003546	HP:0003546	Exercise intolerance	0	CHCHD10 CL E G H	400916	616209	Myopathy, isolated mitochondrial, autosomal dominant	616209	C4015513	OMIM	1	297	15559	615903
HP:0003546	HP:0003546	Exercise intolerance	0	COA7 CL E G H	65260	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	58	25716	615623
HP:0003546	HP:0003546	Exercise intolerance	0	COL13A1 CL E G H	1305	616720	Myasthenic syndrome, congenital, 19	616720	C4225235	OMIM	1	559	2190	120350
HP:0003546	HP:0003546	Exercise intolerance	0	COQ8A CL E G H	56997	139485				ORPHA	1	699	16812	606980
HP:0003546	HP:0003546	Exercise intolerance	0	COQ8A CL E G H	56997	612016	Coenzyme Q10 deficiency, primary, 4	612016	C2677589	OMIM	1	699	16812	606980
HP:0003546	HP:0003546	Exercise intolerance	0	COX10 CL E G H	1352	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	356	2260	602125
HP:0003546	HP:0003546	Exercise intolerance	0	COX14 CL E G H	84987	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	38	28216	614478
HP:0003546	HP:0003546	Exercise intolerance	0	COX20 CL E G H	116228	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	206	26970	614698
HP:0003546	HP:0003546	Exercise intolerance	0	COX6B1 CL E G H	1340	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	68	2280	124089
HP:0003546	HP:0003546	Exercise intolerance	0	COX8A CL E G H	1351	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	32	2294	123870
HP:0003546	HP:0003546	Exercise intolerance	0	DMD CL E G H	1756	98895				ORPHA	1	8184	2928	300377
HP:0003546	HP:0003546	Exercise intolerance	0	DNA2 CL E G H	1763	615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6	615156	C3554599	OMIM	1	601	2939	601810
HP:0003546	HP:0003546	Exercise intolerance	0	ENO3 CL E G H	2027	612932	Glycogen storage disease type 13	612932	C2752027	OMIM	1	317	3354	131370
HP:0003546	HP:0003546	Exercise intolerance	0	FASTKD2 CL E G H	22868	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	401	29160	612322
HP:0003546	HP:0003546	Exercise intolerance	0	FLAD1 CL E G H	80308	255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	255100	C4310822	OMIM	1	235	24671	610595
HP:0003546	HP:0003546	Exercise intolerance	0	GMPPB CL E G H	29925	615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14	615352	C3714932	OMIM	1	364	22932	615320
HP:0003546	HP:0003546	Exercise intolerance	0	GYS1 CL E G H	2997	611556	Glycogen storage disease 0, muscle	611556	C1969054	OMIM	1	607	4706	138570
HP:0003546	HP:0003546	Exercise intolerance	0	HADHA CL E G H	3030	746	Apert like polydactyly syndrome			ORPHA	1	792	4801	600890
HP:0003546	HP:0003546	Exercise intolerance	0	HADHB CL E G H	3032	746	Apert like polydactyly syndrome			ORPHA	1	367	4803	143450
HP:0003546	HP:0003546	Exercise intolerance	0	HINT1 CL E G H	3094	324442				ORPHA	1	139	4912	601314
HP:0003546	HP:0003546	Exercise intolerance	0	ISCU CL E G H	23479	255125	Myopathy with lactic acidosis, hereditary	255125	C1850718	OMIM	1	160	29882	611911
HP:0003546	HP:0003546	Exercise intolerance	0	KBTBD13 CL E G H	390594	171439				ORPHA	1	530	37227	613727
HP:0003546	HP:0003546	Exercise intolerance	0	KBTBD13 CL E G H	390594	609273	Nemaline myopathy 6	609273	C1836472	OMIM	1	530	37227	613727
HP:0003546	HP:0003546	Exercise intolerance	0	KLHL41 CL E G H	10324	171439				ORPHA	1	294	16905	607701
HP:0003546	HP:0003546	Exercise intolerance	0	LAMP2 CL E G H	3920	300257	Danon disease	300257	C0878677	OMIM	1	807	6501	309060
HP:0003546	HP:0003546	Exercise intolerance	0	LDHA CL E G H	3939	612933	Glycogen storage disease XI	612933	C2752022	OMIM	1	206	6535	150000
HP:0003546	HP:0003546	Exercise intolerance	0	MGME1 CL E G H	92667	352447				ORPHA	1	157	16205	615076
HP:0003546	HP:0003546	Exercise intolerance	0	MGME1 CL E G H	92667	615084	Mitochondrial DNA depletion syndrome 11	615084	C3554462	OMIM	1	157	16205	615076
HP:0003546	HP:0003546	Exercise intolerance	0	MT-TE CL E G H	4556	2596	Hantavirosis			ORPHA	1		7479	590025
HP:0003546	HP:0003546	Exercise intolerance	0	MT-TK CL E G H	4566	1349	Chromosome 9, partial monosomy 9p		C2931695	ORPHA	1		7489	590060
HP:0003546	HP:0003546	Exercise intolerance	0	MT-TN CL E G H	4570	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7493	590010
HP:0003546	HP:0003546	Exercise intolerance	0	MT-TS1 CL E G H	4574	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7497	590080
HP:0003546	HP:0003546	Exercise intolerance	0	MYPN CL E G H	84665	171439				ORPHA	1	1485	23246	608517
HP:0003546	HP:0003546	Exercise intolerance	0	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0003546	HP:0003546	Exercise intolerance	0	NEB CL E G H	4703	171439				ORPHA	1	8530	7720	161650
HP:0003546	HP:0003546	Exercise intolerance	0	PET100 CL E G H	100131801	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	76	40038	614770
HP:0003546	HP:0003546	Exercise intolerance	0	PFKM CL E G H	5213	232800	Glycogen storage disease, type VII	232800	C0017926	OMIM	1	678	8877	610681
HP:0003546	HP:0003546	Exercise intolerance	0	PGAM2 CL E G H	5224	261670	Glycogen storage disease type X	261670	C0268149	OMIM	1	174	8889	612931
HP:0003546	HP:0003546	Exercise intolerance	0	PGK1 CL E G H	5230	300653	Phosphoglycerate kinase 1 deficiency	300653	C1970848	OMIM	1	346	8896	311800
HP:0003546	HP:0003546	Exercise intolerance	0	PGM1 CL E G H	5236	614921	Congenital disorder of glycosylation type 1t	614921	C2752015	OMIM	1	413	8905	171900
HP:0003546	HP:0003546	Exercise intolerance	0	PHKA1 CL E G H	5255	300559	Glycogen storage disease IXd	300559	C1845151	OMIM	1	560	8925	311870
HP:0003546	HP:0003546	Exercise intolerance	0	PNPLA2 CL E G H	57104	610717	Neutral lipid storage disease with myopathy	610717	C1853136	OMIM	1	566	30802	609059
HP:0003546	HP:0003546	Exercise intolerance	0	POLG CL E G H	5428	254892				ORPHA	1	2324	9179	174763
HP:0003546	HP:0003546	Exercise intolerance	0	POLG CL E G H	5428	157640	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1	157640	C1834846	OMIM	1	2324	9179	174763
HP:0003546	HP:0003546	Exercise intolerance	0	POLG CL E G H	5428	258450	Cerebellar ataxia infantile with progressive external ophthalmoplegia	258450	C1850303	OMIM	1	2324	9179	174763
HP:0003546	HP:0003546	Exercise intolerance	0	POLG2 CL E G H	11232	254892				ORPHA	1	357	9180	604983
HP:0003546	HP:0003546	Exercise intolerance	0	POLG2 CL E G H	11232	610131	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4	610131	C1864668	OMIM	1	357	9180	604983
HP:0003546	HP:0003546	Exercise intolerance	0	PUS1 CL E G H	80324	600462	Myopathy, lactic acidosis, and sideroblastic anemia 1	600462	C1838103	OMIM	1	478	15508	608109
HP:0003546	HP:0003546	Exercise intolerance	0	RNASEH1 CL E G H	246243	329336				ORPHA	1	189	18466	604123
HP:0003546	HP:0003546	Exercise intolerance	0	RNASEH1 CL E G H	246243	616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	616479	C4225312	OMIM	1	189	18466	604123
HP:0003546	HP:0003546	Exercise intolerance	0	RRM2B CL E G H	50484	329336				ORPHA	1	354	17296	604712
HP:0003546	HP:0003546	Exercise intolerance	0	RRM2B CL E G H	50484	254892				ORPHA	1	354	17296	604712
HP:0003546	HP:0003546	Exercise intolerance	0	RRM2B CL E G H	50484	613077	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5	613077	C2751319	OMIM	1	354	17296	604712
HP:0003546	HP:0003546	Exercise intolerance	0	RSPH4A CL E G H	345895	612649	Ciliary dyskinesia, primary, 11	612649	C2675229	OMIM	1	352	21558	612647
HP:0003546	HP:0003546	Exercise intolerance	0	RSPH9 CL E G H	221421	612650	Ciliary dyskinesia, primary, 12	612650	C2675228	OMIM	1	170	21057	612648
HP:0003546	HP:0003546	Exercise intolerance	0	SCO1 CL E G H	6341	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	212	10603	603644
HP:0003546	HP:0003546	Exercise intolerance	0	SDHA CL E G H	6389	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	2503	10680	600857
HP:0003546	HP:0003546	Exercise intolerance	0	SDHAF1 CL E G H	644096	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	77	33867	612848
HP:0003546	HP:0003546	Exercise intolerance	0	SDHD CL E G H	6392	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	686	10683	602690
HP:0003546	HP:0003546	Exercise intolerance	0	SLC18A3 CL E G H	6572	617239	Myasthenic syndrome, congenital, 21, presynaptic	617239	C4310654	OMIM	1	305	10936	600336
HP:0003546	HP:0003546	Exercise intolerance	0	SLC25A32 CL E G H	81034	616839	Exercise intolerance, riboflavin-responsive	616839	C4225187	OMIM	1	174	29683	610815
HP:0003546	HP:0003546	Exercise intolerance	0	SLC25A4 CL E G H	291	254892				ORPHA	1	333	10990	103220
HP:0003546	HP:0003546	Exercise intolerance	0	SLC25A4 CL E G H	291	609283	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2	609283	C1836460	OMIM	1	333	10990	103220
HP:0003546	HP:0003546	Exercise intolerance	0	SLC25A4 CL E G H	291	615418	Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive	615418	C3809443	OMIM	1	333	10990	103220
HP:0003546	HP:0003546	Exercise intolerance	0	TACO1 CL E G H	51204	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	117	24316	612958
HP:0003546	HP:0003546	Exercise intolerance	0	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0003546	HP:0003546	Exercise intolerance	0	TK2 CL E G H	7084	254875				ORPHA	1	442	11831	188250
HP:0003546	HP:0003546	Exercise intolerance	0	TMEM126B CL E G H	55863	618250	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29	618250		OMIM	1	116	30883	615533
HP:0003546	HP:0003546	Exercise intolerance	0	TOP3A CL E G H	7156	618098	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5	618098	CN253818	OMIM	1	390	11992	601243
HP:0003546	HP:0003546	Exercise intolerance	0	TPM2 CL E G H	7169	171439				ORPHA	1	341	12011	190990
HP:0003546	HP:0003546	Exercise intolerance	0	TPM3 CL E G H	7170	171439				ORPHA	1	343	12012	191030
HP:0003546	HP:0003546	Exercise intolerance	0	TRMT5 CL E G H	57570	616539	Combined oxidative phosphorylation deficiency 26	616539	C4225290	OMIM	1	220	23141	611023
HP:0003546	HP:0003546	Exercise intolerance	0	TWNK CL E G H	56652	254892				ORPHA	1	450	1160	606075
HP:0003546	HP:0003546	Exercise intolerance	0	TWNK CL E G H	56652	609286	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3	609286	C1836439	OMIM	1	450	1160	606075
HP:0003546	HP:0003546	Exercise intolerance	0	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003546	HP:0003546	Exercise intolerance	0	FARSB CL E G H	10056	613658	Rajab syndrome	613658	C3150910	OMIM	0	169	17800	609690
HP:0003546	HP:0003546	Exercise intolerance	0	GMPPB CL E G H	29925	363623				ORPHA	0	364	22932	615320
HP:0003546	HP:0003546	Exercise intolerance	0	POLG CL E G H	5428	254886				ORPHA	0	2324	9179	174763
HP:0003546	HP:0003546	Exercise intolerance	0	TK2 CL E G H	7084	254886				ORPHA	0	442	11831	188250

Genes (77) :ACAD9 ACTA1 AGK APOPT1 ATP5F1D BCS1L C1QBP CAVIN1 CHCHD10 COA7 COA8 COL13A1 COQ8A COX10 COX14 COX20 COX6B1 COX8A DMD DNA2 ENO3 FARSB FASTKD2 FLAD1 GMPPB GYS1 HADHA HADHB HINT1 ISCU KBTBD13 KLHL41 LAMP2 LDHA MGME1 MT-TE MT-TK MT-TN MT-TS1 MYPN NDUFS4 NEB PET100 PFKM PGAM2 PGK1 PGM1 PHKA1 PNPLA2 POLG POLG2 PUS1 RNASEH1 RRM2B RSPH4A RSPH9 SCO1 SDHA SDHAF1 SDHD SLC18A3 SLC25A32 SLC25A4 TACO1 TAZ TK2 TMEM126B TOP3A TPM2 TPM3 TRMT5 TRNE TRNK TRNN TRNS1 TWNK YARS2

Diseases (61) :611126 171439 212350 618120 124000 617713 613327 457050 616209 220110 616720 139485 612016 98895 615156 612932 613658 255100 363623 615352 611556 746 324442 255125 609273 300257 612933 352447 615084 252010 232800 261670 300653 614921 300559 610717 254892 254886 157640 258450 610131 600462 329336 616479 613077 612649 612650 252011 617239 616839 609283 615418 302060 254875 618250 618098 616539 2596 1349 609286 613561

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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