Human Phenotype Ontology 
Grandparent Node:
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Abnormal muscle physiology (HP:0011804)help
Parent Node:
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Functional motor deficit (HP:0004302)help
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Exercise intolerance (HP:0003546)help
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: 
..expandDifficulty climbing stairs (HP:0003551) help
..expandDifficulty running (HP:0009046) help
..expandDifficulty standing (HP:0003698) help
..expandDifficulty walking (HP:0002355) help
..expandEasy fatigability (HP:0003388) help
..expandFrequent falls (HP:0002359) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0003546HP:0003546Exercise intolerance0ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM147821497611103
HP:0003546HP:0003546Exercise intolerance0ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM142721497611103
HP:0003546HP:0003546Exercise intolerance0ACTA1 CL E G H58171439ORPHA1362129102610
HP:0003546HP:0003546Exercise intolerance0ACTA1 CL E G H58171439ORPHA1325129102610
HP:0003546HP:0003546Exercise intolerance0AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM123621869610345
HP:0003546HP:0003546Exercise intolerance0AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM122021869610345
HP:0003546HP:0003546Exercise intolerance0APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM112920492616003
HP:0003546HP:0003546Exercise intolerance0APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM112520492616003
HP:0003546HP:0003546Exercise intolerance0ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM144837603150
HP:0003546HP:0003546Exercise intolerance0ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM142837603150
HP:0003546HP:0003546Exercise intolerance0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM12791020603647
HP:0003546HP:0003546Exercise intolerance0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM12491020603647
HP:0003546HP:0003546Exercise intolerance0C1QBP CL E G H708617713COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33617713C4540209OMIM1461243601269
HP:0003546HP:0003546Exercise intolerance0C1QBP CL E G H708617713COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33617713C4540209OMIM1431243601269
HP:0003546HP:0003546Exercise intolerance0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0003546HP:0003546Exercise intolerance0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0003546HP:0003546Exercise intolerance0CHCHD10 CL E G H400916457050ORPHA123015559615903
HP:0003546HP:0003546Exercise intolerance0CHCHD10 CL E G H400916457050ORPHA120515559615903
HP:0003546HP:0003546Exercise intolerance0CHCHD10 CL E G H400916616209Myopathy, isolated mitochondrial, autosomal dominant616209C4015513OMIM123015559615903
HP:0003546HP:0003546Exercise intolerance0CHCHD10 CL E G H400916616209Myopathy, isolated mitochondrial, autosomal dominant616209C4015513OMIM120515559615903
HP:0003546HP:0003546Exercise intolerance0COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13125716615623
HP:0003546HP:0003546Exercise intolerance0COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12725716615623
HP:0003546HP:0003546Exercise intolerance0COL13A1 CL E G H1305616720Myasthenic syndrome, congenital, 19616720C4225235OMIM12942190120350
HP:0003546HP:0003546Exercise intolerance0COL13A1 CL E G H1305616720Myasthenic syndrome, congenital, 19616720C4225235OMIM11792190120350
HP:0003546HP:0003546Exercise intolerance0COQ8A CL E G H56997139485ORPHA143516812606980
HP:0003546HP:0003546Exercise intolerance0COQ8A CL E G H56997139485ORPHA136716812606980
HP:0003546HP:0003546Exercise intolerance0COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM143516812606980
HP:0003546HP:0003546Exercise intolerance0COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM136716812606980
HP:0003546HP:0003546Exercise intolerance0COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12632260602125
HP:0003546HP:0003546Exercise intolerance0COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12472260602125
HP:0003546HP:0003546Exercise intolerance0COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12828216614478
HP:0003546HP:0003546Exercise intolerance0COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12428216614478
HP:0003546HP:0003546Exercise intolerance0COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM115526970614698
HP:0003546HP:0003546Exercise intolerance0COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM113926970614698
HP:0003546HP:0003546Exercise intolerance0COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1522280124089
HP:0003546HP:0003546Exercise intolerance0COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1442280124089
HP:0003546HP:0003546Exercise intolerance0COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1182294123870
HP:0003546HP:0003546Exercise intolerance0DMD CL E G H175698895ORPHA163952928300377
HP:0003546HP:0003546Exercise intolerance0DMD CL E G H175698895ORPHA156012928300377
HP:0003546HP:0003546Exercise intolerance0DNA2 CL E G H1763615156Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6615156C3554599OMIM12902939601810
HP:0003546HP:0003546Exercise intolerance0DNA2 CL E G H1763615156Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6615156C3554599OMIM12232939601810
HP:0003546HP:0003546Exercise intolerance0ENO3 CL E G H2027612932Glycogen storage disease type 13612932C2752027OMIM11573354131370
HP:0003546HP:0003546Exercise intolerance0ENO3 CL E G H2027612932Glycogen storage disease type 13612932C2752027OMIM11303354131370
HP:0003546HP:0003546Exercise intolerance0FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM129429160612322
HP:0003546HP:0003546Exercise intolerance0FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM127029160612322
HP:0003546HP:0003546Exercise intolerance0FLAD1 CL E G H80308255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency255100C4310822OMIM110124671610595
HP:0003546HP:0003546Exercise intolerance0FLAD1 CL E G H80308255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency255100C4310822OMIM17524671610595
HP:0003546HP:0003546Exercise intolerance0GMPPB CL E G H29925615352Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14615352C3714932OMIM123422932615320
HP:0003546HP:0003546Exercise intolerance0GMPPB CL E G H29925615352Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14615352C3714932OMIM120322932615320
HP:0003546HP:0003546Exercise intolerance0GYS1 CL E G H2997611556Glycogen storage disease 0, muscle611556C1969054OMIM14374706138570
HP:0003546HP:0003546Exercise intolerance0GYS1 CL E G H2997611556Glycogen storage disease 0, muscle611556C1969054OMIM13484706138570
HP:0003546HP:0003546Exercise intolerance0HADHA CL E G H3030746Apert like polydactyly syndromeORPHA15274801600890
HP:0003546HP:0003546Exercise intolerance0HADHA CL E G H3030746Apert like polydactyly syndromeORPHA14774801600890
HP:0003546HP:0003546Exercise intolerance0HADHB CL E G H3032746Apert like polydactyly syndromeORPHA12424803143450
HP:0003546HP:0003546Exercise intolerance0HADHB CL E G H3032746Apert like polydactyly syndromeORPHA12134803143450
HP:0003546HP:0003546Exercise intolerance0HINT1 CL E G H3094324442ORPHA11254912601314
HP:0003546HP:0003546Exercise intolerance0HINT1 CL E G H3094324442ORPHA11144912601314
HP:0003546HP:0003546Exercise intolerance0ISCU CL E G H23479255125Myopathy with lactic acidosis, hereditary255125C1850718OMIM18229882611911
HP:0003546HP:0003546Exercise intolerance0ISCU CL E G H23479255125Myopathy with lactic acidosis, hereditary255125C1850718OMIM110029882611911
HP:0003546HP:0003546Exercise intolerance0KBTBD13 CL E G H390594171439ORPHA138837227613727
HP:0003546HP:0003546Exercise intolerance0KBTBD13 CL E G H390594171439ORPHA131637227613727
HP:0003546HP:0003546Exercise intolerance0KBTBD13 CL E G H390594609273Nemaline myopathy 6609273C1836472OMIM138837227613727
HP:0003546HP:0003546Exercise intolerance0KBTBD13 CL E G H390594609273Nemaline myopathy 6609273C1836472OMIM131637227613727
HP:0003546HP:0003546Exercise intolerance0KLHL41 CL E G H10324171439ORPHA119916905607701
HP:0003546HP:0003546Exercise intolerance0KLHL41 CL E G H10324171439ORPHA115716905607701
HP:0003546HP:0003546Exercise intolerance0LAMP2 CL E G H3920300257Danon disease300257C0878677OMIM17266501309060
HP:0003546HP:0003546Exercise intolerance0LAMP2 CL E G H3920300257Danon disease300257C0878677OMIM16726501309060
HP:0003546HP:0003546Exercise intolerance0LDHA CL E G H3939612933Glycogen storage disease XI612933C2752022OMIM11396535150000
HP:0003546HP:0003546Exercise intolerance0LDHA CL E G H3939612933Glycogen storage disease XI612933C2752022OMIM11326535150000
HP:0003546HP:0003546Exercise intolerance0MGME1 CL E G H92667352447ORPHA17516205615076
HP:0003546HP:0003546Exercise intolerance0MGME1 CL E G H92667352447ORPHA16916205615076
HP:0003546HP:0003546Exercise intolerance0MGME1 CL E G H92667615084Mitochondrial DNA depletion syndrome 11615084C3554462OMIM17516205615076
HP:0003546HP:0003546Exercise intolerance0MGME1 CL E G H92667615084Mitochondrial DNA depletion syndrome 11615084C3554462OMIM16916205615076
HP:0003546HP:0003546Exercise intolerance0MT-TE CL E G H45562596HantavirosisORPHA17479590025
HP:0003546HP:0003546Exercise intolerance0MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0003546HP:0003546Exercise intolerance0MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0003546HP:0003546Exercise intolerance0MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0003546HP:0003546Exercise intolerance0MYPN CL E G H84665171439ORPHA1103323246608517
HP:0003546HP:0003546Exercise intolerance0MYPN CL E G H84665171439ORPHA188723246608517
HP:0003546HP:0003546Exercise intolerance0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11017711602694
HP:0003546HP:0003546Exercise intolerance0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM1977711602694
HP:0003546HP:0003546Exercise intolerance0NEB CL E G H4703171439ORPHA153137720161650
HP:0003546HP:0003546Exercise intolerance0NEB CL E G H4703171439ORPHA146747720161650
HP:0003546HP:0003546Exercise intolerance0PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM14340038614770
HP:0003546HP:0003546Exercise intolerance0PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15140038614770
HP:0003546HP:0003546Exercise intolerance0PFKM CL E G H5213232800Glycogen storage disease, type VII232800C0017926OMIM13438877610681
HP:0003546HP:0003546Exercise intolerance0PFKM CL E G H5213232800Glycogen storage disease, type VII232800C0017926OMIM13778877610681
HP:0003546HP:0003546Exercise intolerance0PGAM2 CL E G H5224261670Glycogen storage disease type X261670C0268149OMIM1958889612931
HP:0003546HP:0003546Exercise intolerance0PGAM2 CL E G H5224261670Glycogen storage disease type X261670C0268149OMIM11018889612931
HP:0003546HP:0003546Exercise intolerance0PGK1 CL E G H5230300653Phosphoglycerate kinase 1 deficiency300653C1970848OMIM12458896311800
HP:0003546HP:0003546Exercise intolerance0PGK1 CL E G H5230300653Phosphoglycerate kinase 1 deficiency300653C1970848OMIM12288896311800
HP:0003546HP:0003546Exercise intolerance0PGM1 CL E G H5236614921Congenital disorder of glycosylation type 1t614921C2752015OMIM12608905171900
HP:0003546HP:0003546Exercise intolerance0PGM1 CL E G H5236614921Congenital disorder of glycosylation type 1t614921C2752015OMIM12328905171900
HP:0003546HP:0003546Exercise intolerance0PHKA1 CL E G H5255300559Glycogen storage disease IXd300559C1845151OMIM13558925311870
HP:0003546HP:0003546Exercise intolerance0PHKA1 CL E G H5255300559Glycogen storage disease IXd300559C1845151OMIM13848925311870
HP:0003546HP:0003546Exercise intolerance0PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM139130802609059
HP:0003546HP:0003546Exercise intolerance0PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM133430802609059
HP:0003546HP:0003546Exercise intolerance0POLG CL E G H5428254892ORPHA117129179174763
HP:0003546HP:0003546Exercise intolerance0POLG CL E G H5428254892ORPHA114709179174763
HP:0003546HP:0003546Exercise intolerance0POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM117129179174763
HP:0003546HP:0003546Exercise intolerance0POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM114709179174763
HP:0003546HP:0003546Exercise intolerance0POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM117129179174763
HP:0003546HP:0003546Exercise intolerance0POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM114709179174763
HP:0003546HP:0003546Exercise intolerance0POLG2 CL E G H11232254892ORPHA12049180604983
HP:0003546HP:0003546Exercise intolerance0POLG2 CL E G H11232254892ORPHA11339180604983
HP:0003546HP:0003546Exercise intolerance0POLG2 CL E G H11232610131Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4610131C1864668OMIM12049180604983
HP:0003546HP:0003546Exercise intolerance0POLG2 CL E G H11232610131Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4610131C1864668OMIM11339180604983
HP:0003546HP:0003546Exercise intolerance0PUS1 CL E G H80324600462Myopathy, lactic acidosis, and sideroblastic anemia 1600462C1838103OMIM127515508608109
HP:0003546HP:0003546Exercise intolerance0PUS1 CL E G H80324600462Myopathy, lactic acidosis, and sideroblastic anemia 1600462C1838103OMIM125815508608109
HP:0003546HP:0003546Exercise intolerance0RNASEH1 CL E G H246243329336ORPHA19518466604123
HP:0003546HP:0003546Exercise intolerance0RNASEH1 CL E G H246243329336ORPHA18618466604123
HP:0003546HP:0003546Exercise intolerance0RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM19518466604123
HP:0003546HP:0003546Exercise intolerance0RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM18618466604123
HP:0003546HP:0003546Exercise intolerance0RRM2B CL E G H50484254892ORPHA127217296604712
HP:0003546HP:0003546Exercise intolerance0RRM2B CL E G H50484254892ORPHA126117296604712
HP:0003546HP:0003546Exercise intolerance0RRM2B CL E G H50484329336ORPHA127217296604712
HP:0003546HP:0003546Exercise intolerance0RRM2B CL E G H50484329336ORPHA126117296604712
HP:0003546HP:0003546Exercise intolerance0RRM2B CL E G H50484613077Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5613077C2751319OMIM127217296604712
HP:0003546HP:0003546Exercise intolerance0RRM2B CL E G H50484613077Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5613077C2751319OMIM126117296604712
HP:0003546HP:0003546Exercise intolerance0RSPH4A CL E G H345895612649Ciliary dyskinesia, primary, 11612649C2675229OMIM124321558612647
HP:0003546HP:0003546Exercise intolerance0RSPH4A CL E G H345895612649Ciliary dyskinesia, primary, 11612649C2675229OMIM120921558612647
HP:0003546HP:0003546Exercise intolerance0RSPH9 CL E G H221421612650Ciliary dyskinesia, primary, 12612650C2675228OMIM110721057612648
HP:0003546HP:0003546Exercise intolerance0RSPH9 CL E G H221421612650Ciliary dyskinesia, primary, 12612650C2675228OMIM19521057612648
HP:0003546HP:0003546Exercise intolerance0SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM115410603603644
HP:0003546HP:0003546Exercise intolerance0SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM114110603603644
HP:0003546HP:0003546Exercise intolerance0SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1154510680600857
HP:0003546HP:0003546Exercise intolerance0SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1177810680600857
HP:0003546HP:0003546Exercise intolerance0SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM15433867612848
HP:0003546HP:0003546Exercise intolerance0SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM14633867612848
HP:0003546HP:0003546Exercise intolerance0SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM144210683602690
HP:0003546HP:0003546Exercise intolerance0SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM150710683602690
HP:0003546HP:0003546Exercise intolerance0SLC18A3 CL E G H6572617239Myasthenic syndrome, congenital, 21, presynaptic617239C4310654OMIM116510936600336
HP:0003546HP:0003546Exercise intolerance0SLC18A3 CL E G H6572617239Myasthenic syndrome, congenital, 21, presynaptic617239C4310654OMIM110210936600336
HP:0003546HP:0003546Exercise intolerance0SLC25A32 CL E G H81034616839Exercise intolerance, riboflavin-responsive616839C4225187OMIM18029683610815
HP:0003546HP:0003546Exercise intolerance0SLC25A32 CL E G H81034616839Exercise intolerance, riboflavin-responsive616839C4225187OMIM17129683610815
HP:0003546HP:0003546Exercise intolerance0SLC25A4 CL E G H291254892ORPHA126110990103220
HP:0003546HP:0003546Exercise intolerance0SLC25A4 CL E G H291254892ORPHA125410990103220
HP:0003546HP:0003546Exercise intolerance0SLC25A4 CL E G H291609283Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2609283C1836460OMIM126110990103220
HP:0003546HP:0003546Exercise intolerance0SLC25A4 CL E G H291609283Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2609283C1836460OMIM125410990103220
HP:0003546HP:0003546Exercise intolerance0SLC25A4 CL E G H291615418Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive615418C3809443OMIM126110990103220
HP:0003546HP:0003546Exercise intolerance0SLC25A4 CL E G H291615418Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive615418C3809443OMIM125410990103220
HP:0003546HP:0003546Exercise intolerance0TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17024316612958
HP:0003546HP:0003546Exercise intolerance0TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17924316612958
HP:0003546HP:0003546Exercise intolerance0TAZ CL E G H69013020603-Methylglutaconic aciduria type 2302060C0574083OMIM111577300394
HP:0003546HP:0003546Exercise intolerance0TK2 CL E G H7084254875ORPHA129911831188250
HP:0003546HP:0003546Exercise intolerance0TK2 CL E G H7084254875ORPHA123011831188250
HP:0003546HP:0003546Exercise intolerance0TMEM126B CL E G H55863618250MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29618250OMIM16630883615533
HP:0003546HP:0003546Exercise intolerance0TMEM126B CL E G H55863618250MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29618250OMIM15730883615533
HP:0003546HP:0003546Exercise intolerance0TOP3A CL E G H7156618098PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5618098CN253818OMIM116711992601243
HP:0003546HP:0003546Exercise intolerance0TOP3A CL E G H7156618098PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5618098CN253818OMIM114511992601243
HP:0003546HP:0003546Exercise intolerance0TPM2 CL E G H7169171439ORPHA124212011190990
HP:0003546HP:0003546Exercise intolerance0TPM2 CL E G H7169171439ORPHA123412011190990
HP:0003546HP:0003546Exercise intolerance0TPM3 CL E G H7170171439ORPHA128312012191030
HP:0003546HP:0003546Exercise intolerance0TPM3 CL E G H7170171439ORPHA126112012191030
HP:0003546HP:0003546Exercise intolerance0TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM17523141611023
HP:0003546HP:0003546Exercise intolerance0TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM15123141611023
HP:0003546HP:0003546Exercise intolerance0TWNK CL E G H56652254892ORPHA12701160606075
HP:0003546HP:0003546Exercise intolerance0TWNK CL E G H56652254892ORPHA12341160606075
HP:0003546HP:0003546Exercise intolerance0TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM12701160606075
HP:0003546HP:0003546Exercise intolerance0TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM12341160606075
HP:0003546HP:0003546Exercise intolerance0YARS2 CL E G H51067613561Myopathy, lactic acidosis, and sideroblastic anemia 2613561C3150802OMIM129124249610957
HP:0003546HP:0003546Exercise intolerance0YARS2 CL E G H51067613561Myopathy, lactic acidosis, and sideroblastic anemia 2613561C3150802OMIM124324249610957
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003546HP:0003546Exercise intolerance0FARSB CL E G H10056613658Rajab syndrome613658C3150910OMIM06317800609690
HP:0003546HP:0003546Exercise intolerance0FARSB CL E G H10056613658Rajab syndrome613658C3150910OMIM04917800609690
HP:0003546HP:0003546Exercise intolerance0GMPPB CL E G H29925363623ORPHA023422932615320
HP:0003546HP:0003546Exercise intolerance0GMPPB CL E G H29925363623ORPHA020322932615320
HP:0003546HP:0003546Exercise intolerance0POLG CL E G H5428254886ORPHA017129179174763
HP:0003546HP:0003546Exercise intolerance0POLG CL E G H5428254886ORPHA014709179174763
HP:0003546HP:0003546Exercise intolerance0TK2 CL E G H7084254886ORPHA029911831188250
HP:0003546HP:0003546Exercise intolerance0TK2 CL E G H7084254886ORPHA023011831188250


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.