Human Phenotype Ontology 
Grandparent Node:
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Abnormal cellular physiology (HP:0011017)help
Parent Node:
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Abnormality of the mitochondrion (HP:0012103)help
..Starting node
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Abnormality of mitochondrial metabolism (HP:0003287)help
Term ID: 3287
Name: Abnormality of mitochondrial metabolism
Synonym: Mitochondrial dysfunction
Definition: A functional anomaly of mitochondria.
Comments:
Reference: HP:0003287
Genes and Diseases:
 
       Child Nodes:
........expandDecreased activity of the pyruvate dehydrogenase complex (HP:0002928) help
........expandMitochondrial malic enzyme reduced (HP:0003232) help
........expandDecreased plasma carnitine (HP:0003234) help
................... HP:0008315 Decreased plasma free carnitine
................... HP:0011936 Decreased plasma total carnitine
........expandMitochondrial propionyl-CoA carboxylase defect (HP:0003288) help
........expandDeficiency or absence of cytochrome b(-245) (HP:0003514) help
........expand3-Methylglutaconic aciduria (HP:0003535) help
................... HP:0003344 3-Methylglutaric aciduria
........expandElectron transfer flavoprotein-ubiquinone oxidoreductase defect (HP:0003647) help
........expandMitochondrial lysine transport defect (HP:0008265) help
........expandAbnormal iron deposition in mitochondria (HP:0008306) help
........expandAbnormal mitochondria in muscle tissue (HP:0008316) help
........expandAbnormal activity of mitochondrial respiratory chain (HP:0011922) help
................... HP:0008972 Decreased activity of mitochondrial respiratory chain
................... HP:0040015 Increased activity of mitochondrial respiratory chain
........expandMitochondrial depletion (HP:0030059) help
........expandDecreased activity of 3-hydroxyacyl-CoA dehydrogenase (HP:0100950) help
........expandMitochondrial respiratory chain defects (HP:0200125) help

 Sister Nodes: 
..expandAbnormal mitochondrial morphology (HP:0008322) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0AK2 CL E G H20433355ORPHA1161362103020
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0AK2 CL E G H20433355ORPHA1133362103020
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0DNMT1 CL E G H1786314404ORPHA18322976126375
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0DNMT1 CL E G H1786314404ORPHA17492976126375
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM116127302615316
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM114027302615316
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0MT-CO1 CL E G H4512550ORPHA17419516030
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0MT-CO2 CL E G H4513550ORPHA17421516040
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0MT-CO3 CL E G H4514550ORPHA17422516050
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0MT-ND1 CL E G H4535550ORPHA17455516000
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0MT-ND4 CL E G H4538550ORPHA17459516003
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0MT-ND5 CL E G H4540550ORPHA17461516005
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0MT-ND6 CL E G H4541550ORPHA17462516006
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0MT-TF CL E G H4558550ORPHA17481590070
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0MT-TH CL E G H4564550ORPHA17487590040
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0MT-TL1 CL E G H4567550ORPHA17490590050
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0MT-TQ CL E G H4572550ORPHA17495590030
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0MT-TS1 CL E G H4574550ORPHA17497590080
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0MT-TS2 CL E G H4575550ORPHA17498590085
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0MT-TW CL E G H4578550ORPHA17501590095
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1AK2 CL E G H20433355ORPHA1161362103020
HP:0003287HP:0003232Mitochondrial malic enzyme reduced1AK2 CL E G H20433355ORPHA1161362103020
HP:0003287HP:0002928Decreased activity of the pyruvate dehydrogenase complex1AK2 CL E G H20433355ORPHA1161362103020
HP:0003287HP:0200125Mitochondrial respiratory chain defects1AK2 CL E G H20433355ORPHA1161362103020
HP:0003287HP:0003514Deficiency or absence of cytochrome b(-245)1AK2 CL E G H20433355ORPHA1161362103020
HP:0003287HP:0030059Mitochondrial depletion1AK2 CL E G H20433355ORPHA1161362103020
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1AK2 CL E G H20433355ORPHA1133362103020
HP:0003287HP:0003232Mitochondrial malic enzyme reduced1AK2 CL E G H20433355ORPHA1133362103020
HP:0003287HP:0002928Decreased activity of the pyruvate dehydrogenase complex1AK2 CL E G H20433355ORPHA1133362103020
HP:0003287HP:0200125Mitochondrial respiratory chain defects1AK2 CL E G H20433355ORPHA1133362103020
HP:0003287HP:0003514Deficiency or absence of cytochrome b(-245)1AK2 CL E G H20433355ORPHA1133362103020
HP:0003287HP:0030059Mitochondrial depletion1AK2 CL E G H20433355ORPHA1133362103020
HP:0003287HP:0008265Mitochondrial lysine transport defect1AK2 CL E G H20433355ORPHA1161362103020
HP:0003287HP:0011922Abnormal activity of mitochondrial respiratory chain1AK2 CL E G H20433355ORPHA1161362103020
HP:0003287HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level1AK2 CL E G H20433355ORPHA1161362103020
HP:0003287HP:0003288Mitochondrial propionyl-CoA carboxylase defect1AK2 CL E G H20433355ORPHA1161362103020
HP:0003287HP:0003234Decreased plasma carnitine1AK2 CL E G H20433355ORPHA1161362103020
HP:0003287HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect1AK2 CL E G H20433355ORPHA1161362103020
HP:0003287HP:0008306Abnormal iron deposition in mitochondria1AK2 CL E G H20433355ORPHA1161362103020
HP:0003287HP:0008265Mitochondrial lysine transport defect1AK2 CL E G H20433355ORPHA1133362103020
HP:0003287HP:0011922Abnormal activity of mitochondrial respiratory chain1AK2 CL E G H20433355ORPHA1133362103020
HP:0003287HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level1AK2 CL E G H20433355ORPHA1133362103020
HP:0003287HP:0003288Mitochondrial propionyl-CoA carboxylase defect1AK2 CL E G H20433355ORPHA1133362103020
HP:0003287HP:0003234Decreased plasma carnitine1AK2 CL E G H20433355ORPHA1133362103020
HP:0003287HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect1AK2 CL E G H20433355ORPHA1133362103020
HP:0003287HP:0008306Abnormal iron deposition in mitochondria1AK2 CL E G H20433355ORPHA1133362103020
HP:0003287HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect1DNMT1 CL E G H1786314404ORPHA18322976126375
HP:0003287HP:0008306Abnormal iron deposition in mitochondria1DNMT1 CL E G H1786314404ORPHA18322976126375
HP:0003287HP:0008265Mitochondrial lysine transport defect1DNMT1 CL E G H1786314404ORPHA18322976126375
HP:0003287HP:0011922Abnormal activity of mitochondrial respiratory chain1DNMT1 CL E G H1786314404ORPHA18322976126375
HP:0003287HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level1DNMT1 CL E G H1786314404ORPHA18322976126375
HP:0003287HP:0003288Mitochondrial propionyl-CoA carboxylase defect1DNMT1 CL E G H1786314404ORPHA18322976126375
HP:0003287HP:0003234Decreased plasma carnitine1DNMT1 CL E G H1786314404ORPHA18322976126375
HP:0003287HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect1DNMT1 CL E G H1786314404ORPHA17492976126375
HP:0003287HP:0008306Abnormal iron deposition in mitochondria1DNMT1 CL E G H1786314404ORPHA17492976126375
HP:0003287HP:0008265Mitochondrial lysine transport defect1DNMT1 CL E G H1786314404ORPHA17492976126375
HP:0003287HP:0011922Abnormal activity of mitochondrial respiratory chain1DNMT1 CL E G H1786314404ORPHA17492976126375
HP:0003287HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level1DNMT1 CL E G H1786314404ORPHA17492976126375
HP:0003287HP:0003288Mitochondrial propionyl-CoA carboxylase defect1DNMT1 CL E G H1786314404ORPHA17492976126375
HP:0003287HP:0003234Decreased plasma carnitine1DNMT1 CL E G H1786314404ORPHA17492976126375
HP:0003287HP:0003514Deficiency or absence of cytochrome b(-245)1DNMT1 CL E G H1786314404ORPHA18322976126375
HP:0003287HP:0030059Mitochondrial depletion1DNMT1 CL E G H1786314404ORPHA18322976126375
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1DNMT1 CL E G H1786314404ORPHA18322976126375
HP:0003287HP:0003232Mitochondrial malic enzyme reduced1DNMT1 CL E G H1786314404ORPHA18322976126375
HP:0003287HP:0002928Decreased activity of the pyruvate dehydrogenase complex1DNMT1 CL E G H1786314404ORPHA18322976126375
HP:0003287HP:0200125Mitochondrial respiratory chain defects1DNMT1 CL E G H1786314404ORPHA18322976126375
HP:0003287HP:0003514Deficiency or absence of cytochrome b(-245)1DNMT1 CL E G H1786314404ORPHA17492976126375
HP:0003287HP:0030059Mitochondrial depletion1DNMT1 CL E G H1786314404ORPHA17492976126375
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1DNMT1 CL E G H1786314404ORPHA17492976126375
HP:0003287HP:0003232Mitochondrial malic enzyme reduced1DNMT1 CL E G H1786314404ORPHA17492976126375
HP:0003287HP:0002928Decreased activity of the pyruvate dehydrogenase complex1DNMT1 CL E G H1786314404ORPHA17492976126375
HP:0003287HP:0200125Mitochondrial respiratory chain defects1DNMT1 CL E G H1786314404ORPHA17492976126375
HP:0003287HP:0030059Mitochondrial depletion1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM116127302615316
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM116127302615316
HP:0003287HP:0003232Mitochondrial malic enzyme reduced1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM116127302615316
HP:0003287HP:0002928Decreased activity of the pyruvate dehydrogenase complex1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM116127302615316
HP:0003287HP:0200125Mitochondrial respiratory chain defects1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM116127302615316
HP:0003287HP:0003514Deficiency or absence of cytochrome b(-245)1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM116127302615316
HP:0003287HP:0030059Mitochondrial depletion1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM114027302615316
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM114027302615316
HP:0003287HP:0003232Mitochondrial malic enzyme reduced1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM114027302615316
HP:0003287HP:0002928Decreased activity of the pyruvate dehydrogenase complex1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM114027302615316
HP:0003287HP:0200125Mitochondrial respiratory chain defects1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM114027302615316
HP:0003287HP:0003514Deficiency or absence of cytochrome b(-245)1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM114027302615316
HP:0003287HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM116127302615316
HP:0003287HP:0008306Abnormal iron deposition in mitochondria1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM116127302615316
HP:0003287HP:0008265Mitochondrial lysine transport defect1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM116127302615316
HP:0003287HP:0011922Abnormal activity of mitochondrial respiratory chain1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM116127302615316
HP:0003287HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM116127302615316
HP:0003287HP:0003288Mitochondrial propionyl-CoA carboxylase defect1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM116127302615316
HP:0003287HP:0003234Decreased plasma carnitine1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM116127302615316
HP:0003287HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM114027302615316
HP:0003287HP:0008306Abnormal iron deposition in mitochondria1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM114027302615316
HP:0003287HP:0008265Mitochondrial lysine transport defect1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM114027302615316
HP:0003287HP:0011922Abnormal activity of mitochondrial respiratory chain1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM114027302615316
HP:0003287HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM114027302615316
HP:0003287HP:0003288Mitochondrial propionyl-CoA carboxylase defect1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM114027302615316
HP:0003287HP:0003234Decreased plasma carnitine1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM114027302615316
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1MT-CO1 CL E G H4512550ORPHA17419516030
HP:0003287HP:0030059Mitochondrial depletion1MT-CO1 CL E G H4512550ORPHA17419516030
HP:0003287HP:0200125Mitochondrial respiratory chain defects1MT-CO1 CL E G H4512550ORPHA17419516030
HP:0003287HP:0008306Abnormal iron deposition in mitochondria1MT-CO1 CL E G H4512550ORPHA17419516030
HP:0003287HP:0003234Decreased plasma carnitine1MT-CO1 CL E G H4512550ORPHA17419516030
HP:0003287HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect1MT-CO1 CL E G H4512550ORPHA17419516030
HP:0003287HP:0011922Abnormal activity of mitochondrial respiratory chain1MT-CO1 CL E G H4512550ORPHA17419516030
HP:0003287HP:0003288Mitochondrial propionyl-CoA carboxylase defect1MT-CO1 CL E G H4512550ORPHA17419516030
HP:0003287HP:0002928Decreased activity of the pyruvate dehydrogenase complex1MT-CO1 CL E G H4512550ORPHA17419516030
HP:0003287HP:0003514Deficiency or absence of cytochrome b(-245)1MT-CO1 CL E G H4512550ORPHA17419516030
HP:0003287HP:0003232Mitochondrial malic enzyme reduced1MT-CO1 CL E G H4512550ORPHA17419516030
HP:0003287HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level1MT-CO1 CL E G H4512550ORPHA17419516030
HP:0003287HP:0008265Mitochondrial lysine transport defect1MT-CO1 CL E G H4512550ORPHA17419516030
HP:0003287HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level1MT-CO2 CL E G H4513550ORPHA17421516040
HP:0003287HP:0008265Mitochondrial lysine transport defect1MT-CO2 CL E G H4513550ORPHA17421516040
HP:0003287HP:0200125Mitochondrial respiratory chain defects1MT-CO2 CL E G H4513550ORPHA17421516040
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1MT-CO2 CL E G H4513550ORPHA17421516040
HP:0003287HP:0030059Mitochondrial depletion1MT-CO2 CL E G H4513550ORPHA17421516040
HP:0003287HP:0011922Abnormal activity of mitochondrial respiratory chain1MT-CO2 CL E G H4513550ORPHA17421516040
HP:0003287HP:0003288Mitochondrial propionyl-CoA carboxylase defect1MT-CO2 CL E G H4513550ORPHA17421516040
HP:0003287HP:0008306Abnormal iron deposition in mitochondria1MT-CO2 CL E G H4513550ORPHA17421516040
HP:0003287HP:0003234Decreased plasma carnitine1MT-CO2 CL E G H4513550ORPHA17421516040
HP:0003287HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect1MT-CO2 CL E G H4513550ORPHA17421516040
HP:0003287HP:0003232Mitochondrial malic enzyme reduced1MT-CO2 CL E G H4513550ORPHA17421516040
HP:0003287HP:0002928Decreased activity of the pyruvate dehydrogenase complex1MT-CO2 CL E G H4513550ORPHA17421516040
HP:0003287HP:0003514Deficiency or absence of cytochrome b(-245)1MT-CO2 CL E G H4513550ORPHA17421516040
HP:0003287HP:0003514Deficiency or absence of cytochrome b(-245)1MT-CO3 CL E G H4514550ORPHA17422516050
HP:0003287HP:0003232Mitochondrial malic enzyme reduced1MT-CO3 CL E G H4514550ORPHA17422516050
HP:0003287HP:0002928Decreased activity of the pyruvate dehydrogenase complex1MT-CO3 CL E G H4514550ORPHA17422516050
HP:0003287HP:0008265Mitochondrial lysine transport defect1MT-CO3 CL E G H4514550ORPHA17422516050
HP:0003287HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level1MT-CO3 CL E G H4514550ORPHA17422516050
HP:0003287HP:0030059Mitochondrial depletion1MT-CO3 CL E G H4514550ORPHA17422516050
HP:0003287HP:0200125Mitochondrial respiratory chain defects1MT-CO3 CL E G H4514550ORPHA17422516050
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1MT-CO3 CL E G H4514550ORPHA17422516050
HP:0003287HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect1MT-CO3 CL E G H4514550ORPHA17422516050
HP:0003287HP:0011922Abnormal activity of mitochondrial respiratory chain1MT-CO3 CL E G H4514550ORPHA17422516050
HP:0003287HP:0003288Mitochondrial propionyl-CoA carboxylase defect1MT-CO3 CL E G H4514550ORPHA17422516050
HP:0003287HP:0008306Abnormal iron deposition in mitochondria1MT-CO3 CL E G H4514550ORPHA17422516050
HP:0003287HP:0003234Decreased plasma carnitine1MT-CO3 CL E G H4514550ORPHA17422516050
HP:0003287HP:0003234Decreased plasma carnitine1MT-ND1 CL E G H4535550ORPHA17455516000
HP:0003287HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect1MT-ND1 CL E G H4535550ORPHA17455516000
HP:0003287HP:0011922Abnormal activity of mitochondrial respiratory chain1MT-ND1 CL E G H4535550ORPHA17455516000
HP:0003287HP:0003288Mitochondrial propionyl-CoA carboxylase defect1MT-ND1 CL E G H4535550ORPHA17455516000
HP:0003287HP:0008306Abnormal iron deposition in mitochondria1MT-ND1 CL E G H4535550ORPHA17455516000
HP:0003287HP:0002928Decreased activity of the pyruvate dehydrogenase complex1MT-ND1 CL E G H4535550ORPHA17455516000
HP:0003287HP:0003514Deficiency or absence of cytochrome b(-245)1MT-ND1 CL E G H4535550ORPHA17455516000
HP:0003287HP:0003232Mitochondrial malic enzyme reduced1MT-ND1 CL E G H4535550ORPHA17455516000
HP:0003287HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level1MT-ND1 CL E G H4535550ORPHA17455516000
HP:0003287HP:0008265Mitochondrial lysine transport defect1MT-ND1 CL E G H4535550ORPHA17455516000
HP:0003287HP:0030059Mitochondrial depletion1MT-ND1 CL E G H4535550ORPHA17455516000
HP:0003287HP:0200125Mitochondrial respiratory chain defects1MT-ND1 CL E G H4535550ORPHA17455516000
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1MT-ND1 CL E G H4535550ORPHA17455516000
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1MT-ND4 CL E G H4538550ORPHA17459516003
HP:0003287HP:0030059Mitochondrial depletion1MT-ND4 CL E G H4538550ORPHA17459516003
HP:0003287HP:0200125Mitochondrial respiratory chain defects1MT-ND4 CL E G H4538550ORPHA17459516003
HP:0003287HP:0008306Abnormal iron deposition in mitochondria1MT-ND4 CL E G H4538550ORPHA17459516003
HP:0003287HP:0003234Decreased plasma carnitine1MT-ND4 CL E G H4538550ORPHA17459516003
HP:0003287HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect1MT-ND4 CL E G H4538550ORPHA17459516003
HP:0003287HP:0011922Abnormal activity of mitochondrial respiratory chain1MT-ND4 CL E G H4538550ORPHA17459516003
HP:0003287HP:0003288Mitochondrial propionyl-CoA carboxylase defect1MT-ND4 CL E G H4538550ORPHA17459516003
HP:0003287HP:0002928Decreased activity of the pyruvate dehydrogenase complex1MT-ND4 CL E G H4538550ORPHA17459516003
HP:0003287HP:0003514Deficiency or absence of cytochrome b(-245)1MT-ND4 CL E G H4538550ORPHA17459516003
HP:0003287HP:0003232Mitochondrial malic enzyme reduced1MT-ND4 CL E G H4538550ORPHA17459516003
HP:0003287HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level1MT-ND4 CL E G H4538550ORPHA17459516003
HP:0003287HP:0008265Mitochondrial lysine transport defect1MT-ND4 CL E G H4538550ORPHA17459516003
HP:0003287HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level1MT-ND5 CL E G H4540550ORPHA17461516005
HP:0003287HP:0008265Mitochondrial lysine transport defect1MT-ND5 CL E G H4540550ORPHA17461516005
HP:0003287HP:0200125Mitochondrial respiratory chain defects1MT-ND5 CL E G H4540550ORPHA17461516005
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1MT-ND5 CL E G H4540550ORPHA17461516005
HP:0003287HP:0030059Mitochondrial depletion1MT-ND5 CL E G H4540550ORPHA17461516005
HP:0003287HP:0003288Mitochondrial propionyl-CoA carboxylase defect1MT-ND5 CL E G H4540550ORPHA17461516005
HP:0003287HP:0008306Abnormal iron deposition in mitochondria1MT-ND5 CL E G H4540550ORPHA17461516005
HP:0003287HP:0003234Decreased plasma carnitine1MT-ND5 CL E G H4540550ORPHA17461516005
HP:0003287HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect1MT-ND5 CL E G H4540550ORPHA17461516005
HP:0003287HP:0011922Abnormal activity of mitochondrial respiratory chain1MT-ND5 CL E G H4540550ORPHA17461516005
HP:0003287HP:0002928Decreased activity of the pyruvate dehydrogenase complex1MT-ND5 CL E G H4540550ORPHA17461516005
HP:0003287HP:0003514Deficiency or absence of cytochrome b(-245)1MT-ND5 CL E G H4540550ORPHA17461516005
HP:0003287HP:0003232Mitochondrial malic enzyme reduced1MT-ND5 CL E G H4540550ORPHA17461516005
HP:0003287HP:0003514Deficiency or absence of cytochrome b(-245)1MT-ND6 CL E G H4541550ORPHA17462516006
HP:0003287HP:0003232Mitochondrial malic enzyme reduced1MT-ND6 CL E G H4541550ORPHA17462516006
HP:0003287HP:0002928Decreased activity of the pyruvate dehydrogenase complex1MT-ND6 CL E G H4541550ORPHA17462516006
HP:0003287HP:0008265Mitochondrial lysine transport defect1MT-ND6 CL E G H4541550ORPHA17462516006
HP:0003287HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level1MT-ND6 CL E G H4541550ORPHA17462516006
HP:0003287HP:0030059Mitochondrial depletion1MT-ND6 CL E G H4541550ORPHA17462516006
HP:0003287HP:0200125Mitochondrial respiratory chain defects1MT-ND6 CL E G H4541550ORPHA17462516006
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1MT-ND6 CL E G H4541550ORPHA17462516006
HP:0003287HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect1MT-ND6 CL E G H4541550ORPHA17462516006
HP:0003287HP:0011922Abnormal activity of mitochondrial respiratory chain1MT-ND6 CL E G H4541550ORPHA17462516006
HP:0003287HP:0003288Mitochondrial propionyl-CoA carboxylase defect1MT-ND6 CL E G H4541550ORPHA17462516006
HP:0003287HP:0008306Abnormal iron deposition in mitochondria1MT-ND6 CL E G H4541550ORPHA17462516006
HP:0003287HP:0003234Decreased plasma carnitine1MT-ND6 CL E G H4541550ORPHA17462516006
HP:0003287HP:0003234Decreased plasma carnitine1MT-TF CL E G H4558550ORPHA17481590070
HP:0003287HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect1MT-TF CL E G H4558550ORPHA17481590070
HP:0003287HP:0011922Abnormal activity of mitochondrial respiratory chain1MT-TF CL E G H4558550ORPHA17481590070
HP:0003287HP:0003288Mitochondrial propionyl-CoA carboxylase defect1MT-TF CL E G H4558550ORPHA17481590070
HP:0003287HP:0008306Abnormal iron deposition in mitochondria1MT-TF CL E G H4558550ORPHA17481590070
HP:0003287HP:0002928Decreased activity of the pyruvate dehydrogenase complex1MT-TF CL E G H4558550ORPHA17481590070
HP:0003287HP:0003514Deficiency or absence of cytochrome b(-245)1MT-TF CL E G H4558550ORPHA17481590070
HP:0003287HP:0003232Mitochondrial malic enzyme reduced1MT-TF CL E G H4558550ORPHA17481590070
HP:0003287HP:0008265Mitochondrial lysine transport defect1MT-TF CL E G H4558550ORPHA17481590070
HP:0003287HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level1MT-TF CL E G H4558550ORPHA17481590070
HP:0003287HP:0030059Mitochondrial depletion1MT-TF CL E G H4558550ORPHA17481590070
HP:0003287HP:0200125Mitochondrial respiratory chain defects1MT-TF CL E G H4558550ORPHA17481590070
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1MT-TF CL E G H4558550ORPHA17481590070
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1MT-TH CL E G H4564550ORPHA17487590040
HP:0003287HP:0030059Mitochondrial depletion1MT-TH CL E G H4564550ORPHA17487590040
HP:0003287HP:0200125Mitochondrial respiratory chain defects1MT-TH CL E G H4564550ORPHA17487590040
HP:0003287HP:0008306Abnormal iron deposition in mitochondria1MT-TH CL E G H4564550ORPHA17487590040
HP:0003287HP:0003234Decreased plasma carnitine1MT-TH CL E G H4564550ORPHA17487590040
HP:0003287HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect1MT-TH CL E G H4564550ORPHA17487590040
HP:0003287HP:0011922Abnormal activity of mitochondrial respiratory chain1MT-TH CL E G H4564550ORPHA17487590040
HP:0003287HP:0003288Mitochondrial propionyl-CoA carboxylase defect1MT-TH CL E G H4564550ORPHA17487590040
HP:0003287HP:0002928Decreased activity of the pyruvate dehydrogenase complex1MT-TH CL E G H4564550ORPHA17487590040
HP:0003287HP:0003514Deficiency or absence of cytochrome b(-245)1MT-TH CL E G H4564550ORPHA17487590040
HP:0003287HP:0003232Mitochondrial malic enzyme reduced1MT-TH CL E G H4564550ORPHA17487590040
HP:0003287HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level1MT-TH CL E G H4564550ORPHA17487590040
HP:0003287HP:0008265Mitochondrial lysine transport defect1MT-TH CL E G H4564550ORPHA17487590040
HP:0003287HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level1MT-TL1 CL E G H4567550ORPHA17490590050
HP:0003287HP:0008265Mitochondrial lysine transport defect1MT-TL1 CL E G H4567550ORPHA17490590050
HP:0003287HP:0200125Mitochondrial respiratory chain defects1MT-TL1 CL E G H4567550ORPHA17490590050
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1MT-TL1 CL E G H4567550ORPHA17490590050
HP:0003287HP:0030059Mitochondrial depletion1MT-TL1 CL E G H4567550ORPHA17490590050
HP:0003287HP:0008306Abnormal iron deposition in mitochondria1MT-TL1 CL E G H4567550ORPHA17490590050
HP:0003287HP:0003234Decreased plasma carnitine1MT-TL1 CL E G H4567550ORPHA17490590050
HP:0003287HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect1MT-TL1 CL E G H4567550ORPHA17490590050
HP:0003287HP:0011922Abnormal activity of mitochondrial respiratory chain1MT-TL1 CL E G H4567550ORPHA17490590050
HP:0003287HP:0003288Mitochondrial propionyl-CoA carboxylase defect1MT-TL1 CL E G H4567550ORPHA17490590050
HP:0003287HP:0002928Decreased activity of the pyruvate dehydrogenase complex1MT-TL1 CL E G H4567550ORPHA17490590050
HP:0003287HP:0003514Deficiency or absence of cytochrome b(-245)1MT-TL1 CL E G H4567550ORPHA17490590050
HP:0003287HP:0003232Mitochondrial malic enzyme reduced1MT-TL1 CL E G H4567550ORPHA17490590050
HP:0003287HP:0003232Mitochondrial malic enzyme reduced1MT-TQ CL E G H4572550ORPHA17495590030
HP:0003287HP:0002928Decreased activity of the pyruvate dehydrogenase complex1MT-TQ CL E G H4572550ORPHA17495590030
HP:0003287HP:0003514Deficiency or absence of cytochrome b(-245)1MT-TQ CL E G H4572550ORPHA17495590030
HP:0003287HP:0008265Mitochondrial lysine transport defect1MT-TQ CL E G H4572550ORPHA17495590030
HP:0003287HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level1MT-TQ CL E G H4572550ORPHA17495590030
HP:0003287HP:0030059Mitochondrial depletion1MT-TQ CL E G H4572550ORPHA17495590030
HP:0003287HP:0200125Mitochondrial respiratory chain defects1MT-TQ CL E G H4572550ORPHA17495590030
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1MT-TQ CL E G H4572550ORPHA17495590030
HP:0003287HP:0011922Abnormal activity of mitochondrial respiratory chain1MT-TQ CL E G H4572550ORPHA17495590030
HP:0003287HP:0003288Mitochondrial propionyl-CoA carboxylase defect1MT-TQ CL E G H4572550ORPHA17495590030
HP:0003287HP:0008306Abnormal iron deposition in mitochondria1MT-TQ CL E G H4572550ORPHA17495590030
HP:0003287HP:0003234Decreased plasma carnitine1MT-TQ CL E G H4572550ORPHA17495590030
HP:0003287HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect1MT-TQ CL E G H4572550ORPHA17495590030
HP:0003287HP:0003234Decreased plasma carnitine1MT-TS1 CL E G H4574550ORPHA17497590080
HP:0003287HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect1MT-TS1 CL E G H4574550ORPHA17497590080
HP:0003287HP:0011922Abnormal activity of mitochondrial respiratory chain1MT-TS1 CL E G H4574550ORPHA17497590080
HP:0003287HP:0003288Mitochondrial propionyl-CoA carboxylase defect1MT-TS1 CL E G H4574550ORPHA17497590080
HP:0003287HP:0008306Abnormal iron deposition in mitochondria1MT-TS1 CL E G H4574550ORPHA17497590080
HP:0003287HP:0003514Deficiency or absence of cytochrome b(-245)1MT-TS1 CL E G H4574550ORPHA17497590080
HP:0003287HP:0003232Mitochondrial malic enzyme reduced1MT-TS1 CL E G H4574550ORPHA17497590080
HP:0003287HP:0002928Decreased activity of the pyruvate dehydrogenase complex1MT-TS1 CL E G H4574550ORPHA17497590080
HP:0003287HP:0008265Mitochondrial lysine transport defect1MT-TS1 CL E G H4574550ORPHA17497590080
HP:0003287HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level1MT-TS1 CL E G H4574550ORPHA17497590080
HP:0003287HP:0030059Mitochondrial depletion1MT-TS1 CL E G H4574550ORPHA17497590080
HP:0003287HP:0200125Mitochondrial respiratory chain defects1MT-TS1 CL E G H4574550ORPHA17497590080
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1MT-TS1 CL E G H4574550ORPHA17497590080
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1MT-TS2 CL E G H4575550ORPHA17498590085
HP:0003287HP:0030059Mitochondrial depletion1MT-TS2 CL E G H4575550ORPHA17498590085
HP:0003287HP:0200125Mitochondrial respiratory chain defects1MT-TS2 CL E G H4575550ORPHA17498590085
HP:0003287HP:0008306Abnormal iron deposition in mitochondria1MT-TS2 CL E G H4575550ORPHA17498590085
HP:0003287HP:0003234Decreased plasma carnitine1MT-TS2 CL E G H4575550ORPHA17498590085
HP:0003287HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect1MT-TS2 CL E G H4575550ORPHA17498590085
HP:0003287HP:0011922Abnormal activity of mitochondrial respiratory chain1MT-TS2 CL E G H4575550ORPHA17498590085
HP:0003287HP:0003288Mitochondrial propionyl-CoA carboxylase defect1MT-TS2 CL E G H4575550ORPHA17498590085
HP:0003287HP:0002928Decreased activity of the pyruvate dehydrogenase complex1MT-TS2 CL E G H4575550ORPHA17498590085
HP:0003287HP:0003514Deficiency or absence of cytochrome b(-245)1MT-TS2 CL E G H4575550ORPHA17498590085
HP:0003287HP:0003232Mitochondrial malic enzyme reduced1MT-TS2 CL E G H4575550ORPHA17498590085
HP:0003287HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level1MT-TS2 CL E G H4575550ORPHA17498590085
HP:0003287HP:0008265Mitochondrial lysine transport defect1MT-TS2 CL E G H4575550ORPHA17498590085
HP:0003287HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level1MT-TW CL E G H4578550ORPHA17501590095
HP:0003287HP:0008265Mitochondrial lysine transport defect1MT-TW CL E G H4578550ORPHA17501590095
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1MT-TW CL E G H4578550ORPHA17501590095
HP:0003287HP:0030059Mitochondrial depletion1MT-TW CL E G H4578550ORPHA17501590095
HP:0003287HP:0200125Mitochondrial respiratory chain defects1MT-TW CL E G H4578550ORPHA17501590095
HP:0003287HP:0008306Abnormal iron deposition in mitochondria1MT-TW CL E G H4578550ORPHA17501590095
HP:0003287HP:0003234Decreased plasma carnitine1MT-TW CL E G H4578550ORPHA17501590095
HP:0003287HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect1MT-TW CL E G H4578550ORPHA17501590095
HP:0003287HP:0011922Abnormal activity of mitochondrial respiratory chain1MT-TW CL E G H4578550ORPHA17501590095
HP:0003287HP:0003288Mitochondrial propionyl-CoA carboxylase defect1MT-TW CL E G H4578550ORPHA17501590095
HP:0003287HP:0002928Decreased activity of the pyruvate dehydrogenase complex1MT-TW CL E G H4578550ORPHA17501590095
HP:0003287HP:0003514Deficiency or absence of cytochrome b(-245)1MT-TW CL E G H4578550ORPHA17501590095
HP:0003287HP:0003232Mitochondrial malic enzyme reduced1MT-TW CL E G H4578550ORPHA17501590095
HP:0003287HP:0008972Decreased activity of mitochondrial respiratory chain2AK2 CL E G H20433355ORPHA1161362103020
HP:0003287HP:0008315Decreased plasma free carnitine2AK2 CL E G H20433355ORPHA1161362103020
HP:0003287HP:0040015Increased activity of mitochondrial respiratory chain2AK2 CL E G H20433355ORPHA1161362103020
HP:0003287HP:0008972Decreased activity of mitochondrial respiratory chain2AK2 CL E G H20433355ORPHA1133362103020
HP:0003287HP:0008315Decreased plasma free carnitine2AK2 CL E G H20433355ORPHA1133362103020
HP:0003287HP:0040015Increased activity of mitochondrial respiratory chain2AK2 CL E G H20433355ORPHA1133362103020
HP:0003287HP:0011936Decreased plasma total carnitine2AK2 CL E G H20433355ORPHA1161362103020
HP:0003287HP:0011936Decreased plasma total carnitine2AK2 CL E G H20433355ORPHA1133362103020
HP:0003287HP:0011936Decreased plasma total carnitine2DNMT1 CL E G H1786314404ORPHA18322976126375
HP:0003287HP:0011936Decreased plasma total carnitine2DNMT1 CL E G H1786314404ORPHA17492976126375
HP:0003287HP:0008315Decreased plasma free carnitine2DNMT1 CL E G H1786314404ORPHA18322976126375
HP:0003287HP:0040015Increased activity of mitochondrial respiratory chain2DNMT1 CL E G H1786314404ORPHA18322976126375
HP:0003287HP:0008972Decreased activity of mitochondrial respiratory chain2DNMT1 CL E G H1786314404ORPHA18322976126375
HP:0003287HP:0040015Increased activity of mitochondrial respiratory chain2DNMT1 CL E G H1786314404ORPHA17492976126375
HP:0003287HP:0008972Decreased activity of mitochondrial respiratory chain2DNMT1 CL E G H1786314404ORPHA17492976126375
HP:0003287HP:0008315Decreased plasma free carnitine2DNMT1 CL E G H1786314404ORPHA17492976126375
HP:0003287HP:0040015Increased activity of mitochondrial respiratory chain2IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM116127302615316
HP:0003287HP:0008972Decreased activity of mitochondrial respiratory chain2IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM116127302615316
HP:0003287HP:0008315Decreased plasma free carnitine2IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM116127302615316
HP:0003287HP:0040015Increased activity of mitochondrial respiratory chain2IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM114027302615316
HP:0003287HP:0008972Decreased activity of mitochondrial respiratory chain2IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM114027302615316
HP:0003287HP:0008315Decreased plasma free carnitine2IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM114027302615316
HP:0003287HP:0011936Decreased plasma total carnitine2IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM116127302615316
HP:0003287HP:0011936Decreased plasma total carnitine2IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM114027302615316
HP:0003287HP:0008315Decreased plasma free carnitine2MT-CO1 CL E G H4512550ORPHA17419516030
HP:0003287HP:0008972Decreased activity of mitochondrial respiratory chain2MT-CO1 CL E G H4512550ORPHA17419516030
HP:0003287HP:0040015Increased activity of mitochondrial respiratory chain2MT-CO1 CL E G H4512550ORPHA17419516030
HP:0003287HP:0011936Decreased plasma total carnitine2MT-CO1 CL E G H4512550ORPHA17419516030
HP:0003287HP:0011936Decreased plasma total carnitine2MT-CO2 CL E G H4513550ORPHA17421516040
HP:0003287HP:0008972Decreased activity of mitochondrial respiratory chain2MT-CO2 CL E G H4513550ORPHA17421516040
HP:0003287HP:0008315Decreased plasma free carnitine2MT-CO2 CL E G H4513550ORPHA17421516040
HP:0003287HP:0040015Increased activity of mitochondrial respiratory chain2MT-CO2 CL E G H4513550ORPHA17421516040
HP:0003287HP:0040015Increased activity of mitochondrial respiratory chain2MT-CO3 CL E G H4514550ORPHA17422516050
HP:0003287HP:0011936Decreased plasma total carnitine2MT-CO3 CL E G H4514550ORPHA17422516050
HP:0003287HP:0008972Decreased activity of mitochondrial respiratory chain2MT-CO3 CL E G H4514550ORPHA17422516050
HP:0003287HP:0008315Decreased plasma free carnitine2MT-CO3 CL E G H4514550ORPHA17422516050
HP:0003287HP:0040015Increased activity of mitochondrial respiratory chain2MT-ND1 CL E G H4535550ORPHA17455516000
HP:0003287HP:0011936Decreased plasma total carnitine2MT-ND1 CL E G H4535550ORPHA17455516000
HP:0003287HP:0008315Decreased plasma free carnitine2MT-ND1 CL E G H4535550ORPHA17455516000
HP:0003287HP:0008972Decreased activity of mitochondrial respiratory chain2MT-ND1 CL E G H4535550ORPHA17455516000
HP:0003287HP:0008315Decreased plasma free carnitine2MT-ND4 CL E G H4538550ORPHA17459516003
HP:0003287HP:0008972Decreased activity of mitochondrial respiratory chain2MT-ND4 CL E G H4538550ORPHA17459516003
HP:0003287HP:0040015Increased activity of mitochondrial respiratory chain2MT-ND4 CL E G H4538550ORPHA17459516003
HP:0003287HP:0011936Decreased plasma total carnitine2MT-ND4 CL E G H4538550ORPHA17459516003
HP:0003287HP:0011936Decreased plasma total carnitine2MT-ND5 CL E G H4540550ORPHA17461516005
HP:0003287HP:0008972Decreased activity of mitochondrial respiratory chain2MT-ND5 CL E G H4540550ORPHA17461516005
HP:0003287HP:0008315Decreased plasma free carnitine2MT-ND5 CL E G H4540550ORPHA17461516005
HP:0003287HP:0040015Increased activity of mitochondrial respiratory chain2MT-ND5 CL E G H4540550ORPHA17461516005
HP:0003287HP:0040015Increased activity of mitochondrial respiratory chain2MT-ND6 CL E G H4541550ORPHA17462516006
HP:0003287HP:0011936Decreased plasma total carnitine2MT-ND6 CL E G H4541550ORPHA17462516006
HP:0003287HP:0008972Decreased activity of mitochondrial respiratory chain2MT-ND6 CL E G H4541550ORPHA17462516006
HP:0003287HP:0008315Decreased plasma free carnitine2MT-ND6 CL E G H4541550ORPHA17462516006
HP:0003287HP:0040015Increased activity of mitochondrial respiratory chain2MT-TF CL E G H4558550ORPHA17481590070
HP:0003287HP:0011936Decreased plasma total carnitine2MT-TF CL E G H4558550ORPHA17481590070
HP:0003287HP:0008315Decreased plasma free carnitine2MT-TF CL E G H4558550ORPHA17481590070
HP:0003287HP:0008972Decreased activity of mitochondrial respiratory chain2MT-TF CL E G H4558550ORPHA17481590070
HP:0003287HP:0008315Decreased plasma free carnitine2MT-TH CL E G H4564550ORPHA17487590040
HP:0003287HP:0008972Decreased activity of mitochondrial respiratory chain2MT-TH CL E G H4564550ORPHA17487590040
HP:0003287HP:0040015Increased activity of mitochondrial respiratory chain2MT-TH CL E G H4564550ORPHA17487590040
HP:0003287HP:0011936Decreased plasma total carnitine2MT-TH CL E G H4564550ORPHA17487590040
HP:0003287HP:0011936Decreased plasma total carnitine2MT-TL1 CL E G H4567550ORPHA17490590050
HP:0003287HP:0008315Decreased plasma free carnitine2MT-TL1 CL E G H4567550ORPHA17490590050
HP:0003287HP:0008972Decreased activity of mitochondrial respiratory chain2MT-TL1 CL E G H4567550ORPHA17490590050
HP:0003287HP:0040015Increased activity of mitochondrial respiratory chain2MT-TL1 CL E G H4567550ORPHA17490590050
HP:0003287HP:0040015Increased activity of mitochondrial respiratory chain2MT-TQ CL E G H4572550ORPHA17495590030
HP:0003287HP:0011936Decreased plasma total carnitine2MT-TQ CL E G H4572550ORPHA17495590030
HP:0003287HP:0008972Decreased activity of mitochondrial respiratory chain2MT-TQ CL E G H4572550ORPHA17495590030
HP:0003287HP:0008315Decreased plasma free carnitine2MT-TQ CL E G H4572550ORPHA17495590030
HP:0003287HP:0040015Increased activity of mitochondrial respiratory chain2MT-TS1 CL E G H4574550ORPHA17497590080
HP:0003287HP:0011936Decreased plasma total carnitine2MT-TS1 CL E G H4574550ORPHA17497590080
HP:0003287HP:0008315Decreased plasma free carnitine2MT-TS1 CL E G H4574550ORPHA17497590080
HP:0003287HP:0008972Decreased activity of mitochondrial respiratory chain2MT-TS1 CL E G H4574550ORPHA17497590080
HP:0003287HP:0008315Decreased plasma free carnitine2MT-TS2 CL E G H4575550ORPHA17498590085
HP:0003287HP:0008972Decreased activity of mitochondrial respiratory chain2MT-TS2 CL E G H4575550ORPHA17498590085
HP:0003287HP:0040015Increased activity of mitochondrial respiratory chain2MT-TS2 CL E G H4575550ORPHA17498590085
HP:0003287HP:0011936Decreased plasma total carnitine2MT-TS2 CL E G H4575550ORPHA17498590085
HP:0003287HP:0011936Decreased plasma total carnitine2MT-TW CL E G H4578550ORPHA17501590095
HP:0003287HP:0008315Decreased plasma free carnitine2MT-TW CL E G H4578550ORPHA17501590095
HP:0003287HP:0008972Decreased activity of mitochondrial respiratory chain2MT-TW CL E G H4578550ORPHA17501590095
HP:0003287HP:0040015Increased activity of mitochondrial respiratory chain2MT-TW CL E G H4578550ORPHA17501590095
HP:0003287HP:0011923Decreased activity of mitochondrial complex I3AK2 CL E G H20433355ORPHA1161362103020
HP:0003287HP:0011924Decreased activity of mitochondrial complex III3AK2 CL E G H20433355ORPHA1161362103020
HP:0003287HP:0011923Decreased activity of mitochondrial complex I3AK2 CL E G H20433355ORPHA1133362103020
HP:0003287HP:0011924Decreased activity of mitochondrial complex III3AK2 CL E G H20433355ORPHA1133362103020
HP:0003287HP:0011925Decreased activity of mitochondrial ATP synthase complex3AK2 CL E G H20433355ORPHA1161362103020
HP:0003287HP:0008314Decreased activity of mitochondrial complex II3AK2 CL E G H20433355ORPHA1161362103020
HP:0003287HP:0008347Decreased activity of mitochondrial complex IV3AK2 CL E G H20433355ORPHA1161362103020
HP:0003287HP:0011925Decreased activity of mitochondrial ATP synthase complex3AK2 CL E G H20433355ORPHA1133362103020
HP:0003287HP:0008314Decreased activity of mitochondrial complex II3AK2 CL E G H20433355ORPHA1133362103020
HP:0003287HP:0008347Decreased activity of mitochondrial complex IV3AK2 CL E G H20433355ORPHA1133362103020
HP:0003287HP:0008314Decreased activity of mitochondrial complex II3DNMT1 CL E G H1786314404ORPHA18322976126375
HP:0003287HP:0008347Decreased activity of mitochondrial complex IV3DNMT1 CL E G H1786314404ORPHA18322976126375
HP:0003287HP:0011925Decreased activity of mitochondrial ATP synthase complex3DNMT1 CL E G H1786314404ORPHA18322976126375
HP:0003287HP:0008347Decreased activity of mitochondrial complex IV3DNMT1 CL E G H1786314404ORPHA17492976126375
HP:0003287HP:0011925Decreased activity of mitochondrial ATP synthase complex3DNMT1 CL E G H1786314404ORPHA17492976126375
HP:0003287HP:0008314Decreased activity of mitochondrial complex II3DNMT1 CL E G H1786314404ORPHA17492976126375
HP:0003287HP:0011924Decreased activity of mitochondrial complex III3DNMT1 CL E G H1786314404ORPHA18322976126375
HP:0003287HP:0011923Decreased activity of mitochondrial complex I3DNMT1 CL E G H1786314404ORPHA18322976126375
HP:0003287HP:0011924Decreased activity of mitochondrial complex III3DNMT1 CL E G H1786314404ORPHA17492976126375
HP:0003287HP:0011923Decreased activity of mitochondrial complex I3DNMT1 CL E G H1786314404ORPHA17492976126375
HP:0003287HP:0011923Decreased activity of mitochondrial complex I3IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM116127302615316
HP:0003287HP:0011924Decreased activity of mitochondrial complex III3IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM116127302615316
HP:0003287HP:0011923Decreased activity of mitochondrial complex I3IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM114027302615316
HP:0003287HP:0011924Decreased activity of mitochondrial complex III3IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM114027302615316
HP:0003287HP:0008347Decreased activity of mitochondrial complex IV3IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM116127302615316
HP:0003287HP:0011925Decreased activity of mitochondrial ATP synthase complex3IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM116127302615316
HP:0003287HP:0008314Decreased activity of mitochondrial complex II3IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM116127302615316
HP:0003287HP:0011925Decreased activity of mitochondrial ATP synthase complex3IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM114027302615316
HP:0003287HP:0008314Decreased activity of mitochondrial complex II3IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM114027302615316
HP:0003287HP:0008347Decreased activity of mitochondrial complex IV3IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM114027302615316
HP:0003287HP:0011924Decreased activity of mitochondrial complex III3MT-CO1 CL E G H4512550ORPHA17419516030
HP:0003287HP:0008314Decreased activity of mitochondrial complex II3MT-CO1 CL E G H4512550ORPHA17419516030
HP:0003287HP:0011923Decreased activity of mitochondrial complex I3MT-CO1 CL E G H4512550ORPHA17419516030
HP:0003287HP:0008347Decreased activity of mitochondrial complex IV3MT-CO1 CL E G H4512550ORPHA17419516030
HP:0003287HP:0011925Decreased activity of mitochondrial ATP synthase complex3MT-CO1 CL E G H4512550ORPHA17419516030
HP:0003287HP:0011925Decreased activity of mitochondrial ATP synthase complex3MT-CO2 CL E G H4513550ORPHA17421516040
HP:0003287HP:0008347Decreased activity of mitochondrial complex IV3MT-CO2 CL E G H4513550ORPHA17421516040
HP:0003287HP:0011924Decreased activity of mitochondrial complex III3MT-CO2 CL E G H4513550ORPHA17421516040
HP:0003287HP:0008314Decreased activity of mitochondrial complex II3MT-CO2 CL E G H4513550ORPHA17421516040
HP:0003287HP:0011923Decreased activity of mitochondrial complex I3MT-CO2 CL E G H4513550ORPHA17421516040
HP:0003287HP:0011923Decreased activity of mitochondrial complex I3MT-CO3 CL E G H4514550ORPHA17422516050
HP:0003287HP:0011925Decreased activity of mitochondrial ATP synthase complex3MT-CO3 CL E G H4514550ORPHA17422516050
HP:0003287HP:0008347Decreased activity of mitochondrial complex IV3MT-CO3 CL E G H4514550ORPHA17422516050
HP:0003287HP:0011924Decreased activity of mitochondrial complex III3MT-CO3 CL E G H4514550ORPHA17422516050
HP:0003287HP:0008314Decreased activity of mitochondrial complex II3MT-CO3 CL E G H4514550ORPHA17422516050
HP:0003287HP:0008314Decreased activity of mitochondrial complex II3MT-ND1 CL E G H4535550ORPHA17455516000
HP:0003287HP:0011923Decreased activity of mitochondrial complex I3MT-ND1 CL E G H4535550ORPHA17455516000
HP:0003287HP:0011925Decreased activity of mitochondrial ATP synthase complex3MT-ND1 CL E G H4535550ORPHA17455516000
HP:0003287HP:0008347Decreased activity of mitochondrial complex IV3MT-ND1 CL E G H4535550ORPHA17455516000
HP:0003287HP:0011924Decreased activity of mitochondrial complex III3MT-ND1 CL E G H4535550ORPHA17455516000
HP:0003287HP:0011924Decreased activity of mitochondrial complex III3MT-ND4 CL E G H4538550ORPHA17459516003
HP:0003287HP:0008314Decreased activity of mitochondrial complex II3MT-ND4 CL E G H4538550ORPHA17459516003
HP:0003287HP:0011923Decreased activity of mitochondrial complex I3MT-ND4 CL E G H4538550ORPHA17459516003
HP:0003287HP:0008347Decreased activity of mitochondrial complex IV3MT-ND4 CL E G H4538550ORPHA17459516003
HP:0003287HP:0011925Decreased activity of mitochondrial ATP synthase complex3MT-ND4 CL E G H4538550ORPHA17459516003
HP:0003287HP:0011925Decreased activity of mitochondrial ATP synthase complex3MT-ND5 CL E G H4540550ORPHA17461516005
HP:0003287HP:0008347Decreased activity of mitochondrial complex IV3MT-ND5 CL E G H4540550ORPHA17461516005
HP:0003287HP:0011924Decreased activity of mitochondrial complex III3MT-ND5 CL E G H4540550ORPHA17461516005
HP:0003287HP:0008314Decreased activity of mitochondrial complex II3MT-ND5 CL E G H4540550ORPHA17461516005
HP:0003287HP:0011923Decreased activity of mitochondrial complex I3MT-ND5 CL E G H4540550ORPHA17461516005
HP:0003287HP:0011923Decreased activity of mitochondrial complex I3MT-ND6 CL E G H4541550ORPHA17462516006
HP:0003287HP:0011925Decreased activity of mitochondrial ATP synthase complex3MT-ND6 CL E G H4541550ORPHA17462516006
HP:0003287HP:0008347Decreased activity of mitochondrial complex IV3MT-ND6 CL E G H4541550ORPHA17462516006
HP:0003287HP:0011924Decreased activity of mitochondrial complex III3MT-ND6 CL E G H4541550ORPHA17462516006
HP:0003287HP:0008314Decreased activity of mitochondrial complex II3MT-ND6 CL E G H4541550ORPHA17462516006
HP:0003287HP:0008314Decreased activity of mitochondrial complex II3MT-TF CL E G H4558550ORPHA17481590070
HP:0003287HP:0011923Decreased activity of mitochondrial complex I3MT-TF CL E G H4558550ORPHA17481590070
HP:0003287HP:0011925Decreased activity of mitochondrial ATP synthase complex3MT-TF CL E G H4558550ORPHA17481590070
HP:0003287HP:0008347Decreased activity of mitochondrial complex IV3MT-TF CL E G H4558550ORPHA17481590070
HP:0003287HP:0011924Decreased activity of mitochondrial complex III3MT-TF CL E G H4558550ORPHA17481590070
HP:0003287HP:0011924Decreased activity of mitochondrial complex III3MT-TH CL E G H4564550ORPHA17487590040
HP:0003287HP:0008314Decreased activity of mitochondrial complex II3MT-TH CL E G H4564550ORPHA17487590040
HP:0003287HP:0011923Decreased activity of mitochondrial complex I3MT-TH CL E G H4564550ORPHA17487590040
HP:0003287HP:0011925Decreased activity of mitochondrial ATP synthase complex3MT-TH CL E G H4564550ORPHA17487590040
HP:0003287HP:0008347Decreased activity of mitochondrial complex IV3MT-TH CL E G H4564550ORPHA17487590040
HP:0003287HP:0011925Decreased activity of mitochondrial ATP synthase complex3MT-TL1 CL E G H4567550ORPHA17490590050
HP:0003287HP:0008347Decreased activity of mitochondrial complex IV3MT-TL1 CL E G H4567550ORPHA17490590050
HP:0003287HP:0011924Decreased activity of mitochondrial complex III3MT-TL1 CL E G H4567550ORPHA17490590050
HP:0003287HP:0008314Decreased activity of mitochondrial complex II3MT-TL1 CL E G H4567550ORPHA17490590050
HP:0003287HP:0011923Decreased activity of mitochondrial complex I3MT-TL1 CL E G H4567550ORPHA17490590050
HP:0003287HP:0011923Decreased activity of mitochondrial complex I3MT-TQ CL E G H4572550ORPHA17495590030
HP:0003287HP:0011925Decreased activity of mitochondrial ATP synthase complex3MT-TQ CL E G H4572550ORPHA17495590030
HP:0003287HP:0008347Decreased activity of mitochondrial complex IV3MT-TQ CL E G H4572550ORPHA17495590030
HP:0003287HP:0011924Decreased activity of mitochondrial complex III3MT-TQ CL E G H4572550ORPHA17495590030
HP:0003287HP:0008314Decreased activity of mitochondrial complex II3MT-TQ CL E G H4572550ORPHA17495590030
HP:0003287HP:0008314Decreased activity of mitochondrial complex II3MT-TS1 CL E G H4574550ORPHA17497590080
HP:0003287HP:0011923Decreased activity of mitochondrial complex I3MT-TS1 CL E G H4574550ORPHA17497590080
HP:0003287HP:0011925Decreased activity of mitochondrial ATP synthase complex3MT-TS1 CL E G H4574550ORPHA17497590080
HP:0003287HP:0008347Decreased activity of mitochondrial complex IV3MT-TS1 CL E G H4574550ORPHA17497590080
HP:0003287HP:0011924Decreased activity of mitochondrial complex III3MT-TS1 CL E G H4574550ORPHA17497590080
HP:0003287HP:0011924Decreased activity of mitochondrial complex III3MT-TS2 CL E G H4575550ORPHA17498590085
HP:0003287HP:0008314Decreased activity of mitochondrial complex II3MT-TS2 CL E G H4575550ORPHA17498590085
HP:0003287HP:0011923Decreased activity of mitochondrial complex I3MT-TS2 CL E G H4575550ORPHA17498590085
HP:0003287HP:0011925Decreased activity of mitochondrial ATP synthase complex3MT-TS2 CL E G H4575550ORPHA17498590085
HP:0003287HP:0008347Decreased activity of mitochondrial complex IV3MT-TS2 CL E G H4575550ORPHA17498590085
HP:0003287HP:0008347Decreased activity of mitochondrial complex IV3MT-TW CL E G H4578550ORPHA17501590095
HP:0003287HP:0011925Decreased activity of mitochondrial ATP synthase complex3MT-TW CL E G H4578550ORPHA17501590095
HP:0003287HP:0011924Decreased activity of mitochondrial complex III3MT-TW CL E G H4578550ORPHA17501590095
HP:0003287HP:0008314Decreased activity of mitochondrial complex II3MT-TW CL E G H4578550ORPHA17501590095
HP:0003287HP:0011923Decreased activity of mitochondrial complex I3MT-TW CL E G H4578550ORPHA17501590095
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (130) :ACAD8 ACAD9 ACADL ACADM ACADVL AFG3L2 AK2 ATP5F1E ATP6 BOLA3 CAMKMT COX1 COX15 COX2 COX3 CPT2 CTNS CYBA CYBB CYTB DGUOK DLAT DLD DNMT1 EARS2 ECHS1 ETFA ETFB ETFDH FBXL4 FOXRED1 FXN GFER GLRX5 HADH HADHA HMGCL IBA57 ISCU LIPT1 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MTFMT MYH7 NADK2 ND1 ND2 ND3 ND4 ND4L ND5 ND6 NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA6 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NFU1 NUBPL PDHA1 PDHX PDP1 PET100 PPM1B PREPL SDHA SDHAF1 SDHD SLC19A3 SLC22A5 SLC25A20 SLC25A26 SLC3A1 SUCLA2 SURF1 TACO1 TIMMDC1 TK2 TMEM126B TRMT5 TRMU TRNE TRNF TRNH TRNL1 TRNL2 TRNN TRNQ TRNS1 TRNS2 TRNW TSFM TTN TXN2

Diseases (61) :33355 550 314404 615330 611283 99901 99900 201450 201475 313772 104 163693 255241 219800 233690 306400 245348 2394 616277 231680 615471 2609 229300 401866 616859 71212 231530 609016 246450 255125 59135 431361 252010 256030 312170 245349 608782 252011 212140 159 616539 254864 613070 663 611705 614299 608836 251880 613076 616034 605711 612073 609560 617069 614053 614924 468661 616794 610505 478029 616811
 

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