Human Phenotype Ontology 
Grandparent Node:
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Abnormality of metabolism/homeostasis (HP:0001939)help
Parent Node:
expand
Abnormal cellular physiology (HP:0011017)help
..Starting node
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Abnormality of the mitochondrion (HP:0012103)help
Term ID: 12103
Name: Abnormality of the mitochondrion
Synonym: Mitochondrial abnormalities
Definition: An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration.
Comments:
Reference: HP:0012103
Genes and Diseases:
 
       Child Nodes:
........expandAbnormality of mitochondrial metabolism (HP:0003287) help
................... HP:0002928 Decreased activity of the pyruvate dehydrogenase complex
................... HP:0003232 Mitochondrial malic enzyme reduced
................... HP:0003234 Decreased plasma carnitine
................... HP:0003288 Mitochondrial propionyl-CoA carboxylase defect
................... HP:0003514 Deficiency or absence of cytochrome b(-245)
................... HP:0003535 3-Methylglutaconic aciduria
................... HP:0003647 Electron transfer flavoprotein-ubiquinone oxidoreductase defect
................... HP:0008265 Mitochondrial lysine transport defect
................... HP:0008306 Abnormal iron deposition in mitochondria
................... HP:0008316 Abnormal mitochondria in muscle tissue
................... HP:0011922 Abnormal activity of mitochondrial respiratory chain
................... HP:0030059 Mitochondrial depletion
................... HP:0100950 Decreased activity of 3-hydroxyacyl-CoA dehydrogenase
................... HP:0200125 Mitochondrial respiratory chain defects
........expandAbnormal mitochondrial morphology (HP:0008322) help
................... HP:0012087 Abnormal mitochondrial shape
................... HP:0012102 Abnormal mitochondrial number

 Sister Nodes: 
..expandAbnormality of B cell physiology (HP:0005372) help
..expandAbnormality of chromosome condensation (HP:0011019) help
..expandAbnormality of chromosome segregation (HP:0002916) help
..expandAbnormality of chromosome stability (HP:0003220) help
..expandAbnormality of DNA repair (HP:0003254) help
..expandAbnormality of lysosomal metabolism (HP:0004356) help
..expandAbnormality of T cell physiology (HP:0011840) help
..expandAbnormality of the cell cycle (HP:0011018) help
..expandIncreased cellular sensitivity to UV light (HP:0003224) help
..expandIncreased sensitivity to ionizing radiation (HP:0011133) help
..expandIntracellular accumulation of autofluorescent lipopigment storage material (HP:0003204) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0012103HP:0012103Abnormality of the mitochondrion0GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA178323657603824
HP:0012103HP:0012103Abnormality of the mitochondrion0KCNJ10 CL E G H3766199343ORPHA13356256602208
HP:0012103HP:0012103Abnormality of the mitochondrion0PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM16899719600414
HP:0012103HP:0012103Abnormality of the mitochondrion0POLG CL E G H5428254892ORPHA119179179174763
HP:0012103HP:0012103Abnormality of the mitochondrion0POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0012103HP:0012103Abnormality of the mitochondrion0POLG2 CL E G H11232254892ORPHA12409180604983
HP:0012103HP:0012103Abnormality of the mitochondrion0RRM2B CL E G H50484254892ORPHA129317296604712
HP:0012103HP:0012103Abnormality of the mitochondrion0RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0012103HP:0012103Abnormality of the mitochondrion0SLC25A3 CL E G H525091130ORPHA111410989600370
HP:0012103HP:0012103Abnormality of the mitochondrion0SLC25A4 CL E G H291254892ORPHA127810990103220
HP:0012103HP:0012103Abnormality of the mitochondrion0TWNK CL E G H56652254892ORPHA13081160606075
HP:0012103HP:0012103Abnormality of the mitochondrion0TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA178323657603824
HP:0012103HP:0008322Abnormal mitochondrial morphology1GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA178323657603824
HP:0012103HP:0008322Abnormal mitochondrial morphology1KCNJ10 CL E G H3766199343ORPHA13356256602208
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1KCNJ10 CL E G H3766199343ORPHA13356256602208
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM16899719600414
HP:0012103HP:0008322Abnormal mitochondrial morphology1PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM16899719600414
HP:0012103HP:0008322Abnormal mitochondrial morphology1POLG CL E G H5428254892ORPHA119179179174763
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1POLG CL E G H5428254892ORPHA119179179174763
HP:0012103HP:0008322Abnormal mitochondrial morphology1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1POLG2 CL E G H11232254892ORPHA12409180604983
HP:0012103HP:0008322Abnormal mitochondrial morphology1POLG2 CL E G H11232254892ORPHA12409180604983
HP:0012103HP:0008322Abnormal mitochondrial morphology1RRM2B CL E G H50484254892ORPHA129317296604712
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1RRM2B CL E G H50484254892ORPHA129317296604712
HP:0012103HP:0008322Abnormal mitochondrial morphology1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0012103HP:0008322Abnormal mitochondrial morphology1SLC25A3 CL E G H525091130ORPHA111410989600370
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1SLC25A3 CL E G H525091130ORPHA111410989600370
HP:0012103HP:0008322Abnormal mitochondrial morphology1SLC25A4 CL E G H291254892ORPHA127810990103220
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1SLC25A4 CL E G H291254892ORPHA127810990103220
HP:0012103HP:0008322Abnormal mitochondrial morphology1TWNK CL E G H56652254892ORPHA13081160606075
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1TWNK CL E G H56652254892ORPHA13081160606075
HP:0012103HP:0008322Abnormal mitochondrial morphology1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA178323657603824
HP:0012103HP:0003514Deficiency or absence of cytochrome b(-245)2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA178323657603824
HP:0012103HP:0003232Mitochondrial malic enzyme reduced2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA178323657603824
HP:0012103HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA178323657603824
HP:0012103HP:0008265Mitochondrial lysine transport defect2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA178323657603824
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA178323657603824
HP:0012103HP:0012102Abnormal mitochondrial number2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA178323657603824
HP:0012103HP:0030059Mitochondrial depletion2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA178323657603824
HP:0012103HP:0200125Mitochondrial respiratory chain defects2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA178323657603824
HP:0012103HP:0008306Abnormal iron deposition in mitochondria2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA178323657603824
HP:0012103HP:0003234Decreased plasma carnitine2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA178323657603824
HP:0012103HP:0012087Abnormal mitochondrial shape2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA178323657603824
HP:0012103HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA178323657603824
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA178323657603824
HP:0012103HP:0003288Mitochondrial propionyl-CoA carboxylase defect2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA178323657603824
HP:0012103HP:0200125Mitochondrial respiratory chain defects2KCNJ10 CL E G H3766199343ORPHA13356256602208
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2KCNJ10 CL E G H3766199343ORPHA13356256602208
HP:0012103HP:0012102Abnormal mitochondrial number2KCNJ10 CL E G H3766199343ORPHA13356256602208
HP:0012103HP:0030059Mitochondrial depletion2KCNJ10 CL E G H3766199343ORPHA13356256602208
HP:0012103HP:0003288Mitochondrial propionyl-CoA carboxylase defect2KCNJ10 CL E G H3766199343ORPHA13356256602208
HP:0012103HP:0008306Abnormal iron deposition in mitochondria2KCNJ10 CL E G H3766199343ORPHA13356256602208
HP:0012103HP:0003234Decreased plasma carnitine2KCNJ10 CL E G H3766199343ORPHA13356256602208
HP:0012103HP:0012087Abnormal mitochondrial shape2KCNJ10 CL E G H3766199343ORPHA13356256602208
HP:0012103HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect2KCNJ10 CL E G H3766199343ORPHA13356256602208
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2KCNJ10 CL E G H3766199343ORPHA13356256602208
HP:0012103HP:0003232Mitochondrial malic enzyme reduced2KCNJ10 CL E G H3766199343ORPHA13356256602208
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2KCNJ10 CL E G H3766199343ORPHA13356256602208
HP:0012103HP:0003514Deficiency or absence of cytochrome b(-245)2KCNJ10 CL E G H3766199343ORPHA13356256602208
HP:0012103HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level2KCNJ10 CL E G H3766199343ORPHA13356256602208
HP:0012103HP:0008265Mitochondrial lysine transport defect2KCNJ10 CL E G H3766199343ORPHA13356256602208
HP:0012103HP:0003232Mitochondrial malic enzyme reduced2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM16899719600414
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM16899719600414
HP:0012103HP:0003514Deficiency or absence of cytochrome b(-245)2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM16899719600414
HP:0012103HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM16899719600414
HP:0012103HP:0008265Mitochondrial lysine transport defect2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM16899719600414
HP:0012103HP:0200125Mitochondrial respiratory chain defects2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM16899719600414
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM16899719600414
HP:0012103HP:0012102Abnormal mitochondrial number2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM16899719600414
HP:0012103HP:0030059Mitochondrial depletion2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM16899719600414
HP:0012103HP:0003288Mitochondrial propionyl-CoA carboxylase defect2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM16899719600414
HP:0012103HP:0008306Abnormal iron deposition in mitochondria2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM16899719600414
HP:0012103HP:0003234Decreased plasma carnitine2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM16899719600414
HP:0012103HP:0012087Abnormal mitochondrial shape2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM16899719600414
HP:0012103HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM16899719600414
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM16899719600414
HP:0012103HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level2POLG CL E G H5428254892ORPHA119179179174763
HP:0012103HP:0008265Mitochondrial lysine transport defect2POLG CL E G H5428254892ORPHA119179179174763
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2POLG CL E G H5428254892ORPHA119179179174763
HP:0012103HP:0012102Abnormal mitochondrial number2POLG CL E G H5428254892ORPHA119179179174763
HP:0012103HP:0030059Mitochondrial depletion2POLG CL E G H5428254892ORPHA119179179174763
HP:0012103HP:0200125Mitochondrial respiratory chain defects2POLG CL E G H5428254892ORPHA119179179174763
HP:0012103HP:0008306Abnormal iron deposition in mitochondria2POLG CL E G H5428254892ORPHA119179179174763
HP:0012103HP:0003234Decreased plasma carnitine2POLG CL E G H5428254892ORPHA119179179174763
HP:0012103HP:0012087Abnormal mitochondrial shape2POLG CL E G H5428254892ORPHA119179179174763
HP:0012103HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect2POLG CL E G H5428254892ORPHA119179179174763
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2POLG CL E G H5428254892ORPHA119179179174763
HP:0012103HP:0003288Mitochondrial propionyl-CoA carboxylase defect2POLG CL E G H5428254892ORPHA119179179174763
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2POLG CL E G H5428254892ORPHA119179179174763
HP:0012103HP:0003514Deficiency or absence of cytochrome b(-245)2POLG CL E G H5428254892ORPHA119179179174763
HP:0012103HP:0003232Mitochondrial malic enzyme reduced2POLG CL E G H5428254892ORPHA119179179174763
HP:0012103HP:0008306Abnormal iron deposition in mitochondria2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0012103HP:0003234Decreased plasma carnitine2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0012103HP:0012087Abnormal mitochondrial shape2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0012103HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0012103HP:0003288Mitochondrial propionyl-CoA carboxylase defect2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0012103HP:0003514Deficiency or absence of cytochrome b(-245)2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0012103HP:0003232Mitochondrial malic enzyme reduced2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0012103HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0012103HP:0008265Mitochondrial lysine transport defect2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0012103HP:0012102Abnormal mitochondrial number2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0012103HP:0030059Mitochondrial depletion2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0012103HP:0200125Mitochondrial respiratory chain defects2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0012103HP:0003514Deficiency or absence of cytochrome b(-245)2POLG2 CL E G H11232254892ORPHA12409180604983
HP:0012103HP:0003232Mitochondrial malic enzyme reduced2POLG2 CL E G H11232254892ORPHA12409180604983
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2POLG2 CL E G H11232254892ORPHA12409180604983
HP:0012103HP:0008265Mitochondrial lysine transport defect2POLG2 CL E G H11232254892ORPHA12409180604983
HP:0012103HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level2POLG2 CL E G H11232254892ORPHA12409180604983
HP:0012103HP:0030059Mitochondrial depletion2POLG2 CL E G H11232254892ORPHA12409180604983
HP:0012103HP:0200125Mitochondrial respiratory chain defects2POLG2 CL E G H11232254892ORPHA12409180604983
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2POLG2 CL E G H11232254892ORPHA12409180604983
HP:0012103HP:0012102Abnormal mitochondrial number2POLG2 CL E G H11232254892ORPHA12409180604983
HP:0012103HP:0012087Abnormal mitochondrial shape2POLG2 CL E G H11232254892ORPHA12409180604983
HP:0012103HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect2POLG2 CL E G H11232254892ORPHA12409180604983
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2POLG2 CL E G H11232254892ORPHA12409180604983
HP:0012103HP:0003288Mitochondrial propionyl-CoA carboxylase defect2POLG2 CL E G H11232254892ORPHA12409180604983
HP:0012103HP:0008306Abnormal iron deposition in mitochondria2POLG2 CL E G H11232254892ORPHA12409180604983
HP:0012103HP:0003234Decreased plasma carnitine2POLG2 CL E G H11232254892ORPHA12409180604983
HP:0012103HP:0003288Mitochondrial propionyl-CoA carboxylase defect2RRM2B CL E G H50484254892ORPHA129317296604712
HP:0012103HP:0008306Abnormal iron deposition in mitochondria2RRM2B CL E G H50484254892ORPHA129317296604712
HP:0012103HP:0003234Decreased plasma carnitine2RRM2B CL E G H50484254892ORPHA129317296604712
HP:0012103HP:0012087Abnormal mitochondrial shape2RRM2B CL E G H50484254892ORPHA129317296604712
HP:0012103HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect2RRM2B CL E G H50484254892ORPHA129317296604712
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2RRM2B CL E G H50484254892ORPHA129317296604712
HP:0012103HP:0003232Mitochondrial malic enzyme reduced2RRM2B CL E G H50484254892ORPHA129317296604712
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2RRM2B CL E G H50484254892ORPHA129317296604712
HP:0012103HP:0003514Deficiency or absence of cytochrome b(-245)2RRM2B CL E G H50484254892ORPHA129317296604712
HP:0012103HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level2RRM2B CL E G H50484254892ORPHA129317296604712
HP:0012103HP:0008265Mitochondrial lysine transport defect2RRM2B CL E G H50484254892ORPHA129317296604712
HP:0012103HP:0200125Mitochondrial respiratory chain defects2RRM2B CL E G H50484254892ORPHA129317296604712
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2RRM2B CL E G H50484254892ORPHA129317296604712
HP:0012103HP:0012102Abnormal mitochondrial number2RRM2B CL E G H50484254892ORPHA129317296604712
HP:0012103HP:0030059Mitochondrial depletion2RRM2B CL E G H50484254892ORPHA129317296604712
HP:0012103HP:0030059Mitochondrial depletion2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0012103HP:0200125Mitochondrial respiratory chain defects2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0012103HP:0012102Abnormal mitochondrial number2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0012103HP:0012087Abnormal mitochondrial shape2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0012103HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0012103HP:0003288Mitochondrial propionyl-CoA carboxylase defect2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0012103HP:0008306Abnormal iron deposition in mitochondria2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0012103HP:0003234Decreased plasma carnitine2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0012103HP:0003514Deficiency or absence of cytochrome b(-245)2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0012103HP:0003232Mitochondrial malic enzyme reduced2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0012103HP:0008265Mitochondrial lysine transport defect2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0012103HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0012103HP:0012087Abnormal mitochondrial shape2SLC25A3 CL E G H525091130ORPHA111410989600370
HP:0012103HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect2SLC25A3 CL E G H525091130ORPHA111410989600370
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2SLC25A3 CL E G H525091130ORPHA111410989600370
HP:0012103HP:0003288Mitochondrial propionyl-CoA carboxylase defect2SLC25A3 CL E G H525091130ORPHA111410989600370
HP:0012103HP:0008306Abnormal iron deposition in mitochondria2SLC25A3 CL E G H525091130ORPHA111410989600370
HP:0012103HP:0003234Decreased plasma carnitine2SLC25A3 CL E G H525091130ORPHA111410989600370
HP:0012103HP:0003514Deficiency or absence of cytochrome b(-245)2SLC25A3 CL E G H525091130ORPHA111410989600370
HP:0012103HP:0003232Mitochondrial malic enzyme reduced2SLC25A3 CL E G H525091130ORPHA111410989600370
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2SLC25A3 CL E G H525091130ORPHA111410989600370
HP:0012103HP:0008265Mitochondrial lysine transport defect2SLC25A3 CL E G H525091130ORPHA111410989600370
HP:0012103HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level2SLC25A3 CL E G H525091130ORPHA111410989600370
HP:0012103HP:0030059Mitochondrial depletion2SLC25A3 CL E G H525091130ORPHA111410989600370
HP:0012103HP:0200125Mitochondrial respiratory chain defects2SLC25A3 CL E G H525091130ORPHA111410989600370
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2SLC25A3 CL E G H525091130ORPHA111410989600370
HP:0012103HP:0012102Abnormal mitochondrial number2SLC25A3 CL E G H525091130ORPHA111410989600370
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2SLC25A4 CL E G H291254892ORPHA127810990103220
HP:0012103HP:0012102Abnormal mitochondrial number2SLC25A4 CL E G H291254892ORPHA127810990103220
HP:0012103HP:0030059Mitochondrial depletion2SLC25A4 CL E G H291254892ORPHA127810990103220
HP:0012103HP:0200125Mitochondrial respiratory chain defects2SLC25A4 CL E G H291254892ORPHA127810990103220
HP:0012103HP:0008306Abnormal iron deposition in mitochondria2SLC25A4 CL E G H291254892ORPHA127810990103220
HP:0012103HP:0003234Decreased plasma carnitine2SLC25A4 CL E G H291254892ORPHA127810990103220
HP:0012103HP:0012087Abnormal mitochondrial shape2SLC25A4 CL E G H291254892ORPHA127810990103220
HP:0012103HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect2SLC25A4 CL E G H291254892ORPHA127810990103220
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2SLC25A4 CL E G H291254892ORPHA127810990103220
HP:0012103HP:0003288Mitochondrial propionyl-CoA carboxylase defect2SLC25A4 CL E G H291254892ORPHA127810990103220
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2SLC25A4 CL E G H291254892ORPHA127810990103220
HP:0012103HP:0003514Deficiency or absence of cytochrome b(-245)2SLC25A4 CL E G H291254892ORPHA127810990103220
HP:0012103HP:0003232Mitochondrial malic enzyme reduced2SLC25A4 CL E G H291254892ORPHA127810990103220
HP:0012103HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level2SLC25A4 CL E G H291254892ORPHA127810990103220
HP:0012103HP:0008265Mitochondrial lysine transport defect2SLC25A4 CL E G H291254892ORPHA127810990103220
HP:0012103HP:0008265Mitochondrial lysine transport defect2TWNK CL E G H56652254892ORPHA13081160606075
HP:0012103HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level2TWNK CL E G H56652254892ORPHA13081160606075
HP:0012103HP:0030059Mitochondrial depletion2TWNK CL E G H56652254892ORPHA13081160606075
HP:0012103HP:0200125Mitochondrial respiratory chain defects2TWNK CL E G H56652254892ORPHA13081160606075
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2TWNK CL E G H56652254892ORPHA13081160606075
HP:0012103HP:0012102Abnormal mitochondrial number2TWNK CL E G H56652254892ORPHA13081160606075
HP:0012103HP:0012087Abnormal mitochondrial shape2TWNK CL E G H56652254892ORPHA13081160606075
HP:0012103HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect2TWNK CL E G H56652254892ORPHA13081160606075
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2TWNK CL E G H56652254892ORPHA13081160606075
HP:0012103HP:0003288Mitochondrial propionyl-CoA carboxylase defect2TWNK CL E G H56652254892ORPHA13081160606075
HP:0012103HP:0008306Abnormal iron deposition in mitochondria2TWNK CL E G H56652254892ORPHA13081160606075
HP:0012103HP:0003234Decreased plasma carnitine2TWNK CL E G H56652254892ORPHA13081160606075
HP:0012103HP:0003514Deficiency or absence of cytochrome b(-245)2TWNK CL E G H56652254892ORPHA13081160606075
HP:0012103HP:0003232Mitochondrial malic enzyme reduced2TWNK CL E G H56652254892ORPHA13081160606075
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2TWNK CL E G H56652254892ORPHA13081160606075
HP:0012103HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0012103HP:0008265Mitochondrial lysine transport defect2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0012103HP:0200125Mitochondrial respiratory chain defects2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0012103HP:0012102Abnormal mitochondrial number2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0012103HP:0030059Mitochondrial depletion2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0012103HP:0003288Mitochondrial propionyl-CoA carboxylase defect2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0012103HP:0008306Abnormal iron deposition in mitochondria2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0012103HP:0003234Decreased plasma carnitine2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0012103HP:0012087Abnormal mitochondrial shape2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0012103HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0012103HP:0003232Mitochondrial malic enzyme reduced2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0012103HP:0003514Deficiency or absence of cytochrome b(-245)2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0012103HP:0040015Increased activity of mitochondrial respiratory chain3GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA178323657603824
HP:0012103HP:0040014Increased mitochondrial number3GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA178323657603824
HP:0012103HP:0040013Decreased mitochondrial number3GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA178323657603824
HP:0012103HP:0011936Decreased plasma total carnitine3GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA178323657603824
HP:0012103HP:0030774Mitochondrial swelling3GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA178323657603824
HP:0012103HP:0008315Decreased plasma free carnitine3GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA178323657603824
HP:0012103HP:0033686Mitochondrial hypertrophy3GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA178323657603824
HP:0012103HP:0008972Decreased activity of mitochondrial respiratory chain3GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA178323657603824
HP:0012103HP:0008972Decreased activity of mitochondrial respiratory chain3KCNJ10 CL E G H3766199343ORPHA13356256602208
HP:0012103HP:0008315Decreased plasma free carnitine3KCNJ10 CL E G H3766199343ORPHA13356256602208
HP:0012103HP:0033686Mitochondrial hypertrophy3KCNJ10 CL E G H3766199343ORPHA13356256602208
HP:0012103HP:0040015Increased activity of mitochondrial respiratory chain3KCNJ10 CL E G H3766199343ORPHA13356256602208
HP:0012103HP:0040014Increased mitochondrial number3KCNJ10 CL E G H3766199343ORPHA13356256602208
HP:0012103HP:0040013Decreased mitochondrial number3KCNJ10 CL E G H3766199343ORPHA13356256602208
HP:0012103HP:0011936Decreased plasma total carnitine3KCNJ10 CL E G H3766199343ORPHA13356256602208
HP:0012103HP:0030774Mitochondrial swelling3KCNJ10 CL E G H3766199343ORPHA13356256602208
HP:0012103HP:0040015Increased activity of mitochondrial respiratory chain3PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM16899719600414
HP:0012103HP:0040014Increased mitochondrial number3PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM16899719600414
HP:0012103HP:0040013Decreased mitochondrial number3PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM16899719600414
HP:0012103HP:0011936Decreased plasma total carnitine3PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM16899719600414
HP:0012103HP:0030774Mitochondrial swelling3PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM16899719600414
HP:0012103HP:0008972Decreased activity of mitochondrial respiratory chain3PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM16899719600414
HP:0012103HP:0008315Decreased plasma free carnitine3PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM16899719600414
HP:0012103HP:0033686Mitochondrial hypertrophy3PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM16899719600414
HP:0012103HP:0040013Decreased mitochondrial number3POLG CL E G H5428254892ORPHA119179179174763
HP:0012103HP:0011936Decreased plasma total carnitine3POLG CL E G H5428254892ORPHA119179179174763
HP:0012103HP:0030774Mitochondrial swelling3POLG CL E G H5428254892ORPHA119179179174763
HP:0012103HP:0008315Decreased plasma free carnitine3POLG CL E G H5428254892ORPHA119179179174763
HP:0012103HP:0033686Mitochondrial hypertrophy3POLG CL E G H5428254892ORPHA119179179174763
HP:0012103HP:0008972Decreased activity of mitochondrial respiratory chain3POLG CL E G H5428254892ORPHA119179179174763
HP:0012103HP:0040015Increased activity of mitochondrial respiratory chain3POLG CL E G H5428254892ORPHA119179179174763
HP:0012103HP:0040014Increased mitochondrial number3POLG CL E G H5428254892ORPHA119179179174763
HP:0012103HP:0040015Increased activity of mitochondrial respiratory chain3POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0012103HP:0040014Increased mitochondrial number3POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0012103HP:0040013Decreased mitochondrial number3POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0012103HP:0011936Decreased plasma total carnitine3POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0012103HP:0030774Mitochondrial swelling3POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0012103HP:0008315Decreased plasma free carnitine3POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0012103HP:0033686Mitochondrial hypertrophy3POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0012103HP:0008972Decreased activity of mitochondrial respiratory chain3POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0012103HP:0040014Increased mitochondrial number3POLG2 CL E G H11232254892ORPHA12409180604983
HP:0012103HP:0040015Increased activity of mitochondrial respiratory chain3POLG2 CL E G H11232254892ORPHA12409180604983
HP:0012103HP:0011936Decreased plasma total carnitine3POLG2 CL E G H11232254892ORPHA12409180604983
HP:0012103HP:0030774Mitochondrial swelling3POLG2 CL E G H11232254892ORPHA12409180604983
HP:0012103HP:0040013Decreased mitochondrial number3POLG2 CL E G H11232254892ORPHA12409180604983
HP:0012103HP:0008315Decreased plasma free carnitine3POLG2 CL E G H11232254892ORPHA12409180604983
HP:0012103HP:0033686Mitochondrial hypertrophy3POLG2 CL E G H11232254892ORPHA12409180604983
HP:0012103HP:0008972Decreased activity of mitochondrial respiratory chain3POLG2 CL E G H11232254892ORPHA12409180604983
HP:0012103HP:0040015Increased activity of mitochondrial respiratory chain3RRM2B CL E G H50484254892ORPHA129317296604712
HP:0012103HP:0040014Increased mitochondrial number3RRM2B CL E G H50484254892ORPHA129317296604712
HP:0012103HP:0040013Decreased mitochondrial number3RRM2B CL E G H50484254892ORPHA129317296604712
HP:0012103HP:0011936Decreased plasma total carnitine3RRM2B CL E G H50484254892ORPHA129317296604712
HP:0012103HP:0030774Mitochondrial swelling3RRM2B CL E G H50484254892ORPHA129317296604712
HP:0012103HP:0008972Decreased activity of mitochondrial respiratory chain3RRM2B CL E G H50484254892ORPHA129317296604712
HP:0012103HP:0008315Decreased plasma free carnitine3RRM2B CL E G H50484254892ORPHA129317296604712
HP:0012103HP:0033686Mitochondrial hypertrophy3RRM2B CL E G H50484254892ORPHA129317296604712
HP:0012103HP:0008315Decreased plasma free carnitine3RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0012103HP:0033686Mitochondrial hypertrophy3RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0012103HP:0008972Decreased activity of mitochondrial respiratory chain3RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0012103HP:0040014Increased mitochondrial number3RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0012103HP:0040015Increased activity of mitochondrial respiratory chain3RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0012103HP:0040013Decreased mitochondrial number3RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0012103HP:0011936Decreased plasma total carnitine3RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0012103HP:0030774Mitochondrial swelling3RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0012103HP:0040014Increased mitochondrial number3SLC25A3 CL E G H525091130ORPHA111410989600370
HP:0012103HP:0040015Increased activity of mitochondrial respiratory chain3SLC25A3 CL E G H525091130ORPHA111410989600370
HP:0012103HP:0011936Decreased plasma total carnitine3SLC25A3 CL E G H525091130ORPHA111410989600370
HP:0012103HP:0030774Mitochondrial swelling3SLC25A3 CL E G H525091130ORPHA111410989600370
HP:0012103HP:0040013Decreased mitochondrial number3SLC25A3 CL E G H525091130ORPHA111410989600370
HP:0012103HP:0008315Decreased plasma free carnitine3SLC25A3 CL E G H525091130ORPHA111410989600370
HP:0012103HP:0033686Mitochondrial hypertrophy3SLC25A3 CL E G H525091130ORPHA111410989600370
HP:0012103HP:0008972Decreased activity of mitochondrial respiratory chain3SLC25A3 CL E G H525091130ORPHA111410989600370
HP:0012103HP:0008315Decreased plasma free carnitine3SLC25A4 CL E G H291254892ORPHA127810990103220
HP:0012103HP:0033686Mitochondrial hypertrophy3SLC25A4 CL E G H291254892ORPHA127810990103220
HP:0012103HP:0008972Decreased activity of mitochondrial respiratory chain3SLC25A4 CL E G H291254892ORPHA127810990103220
HP:0012103HP:0040015Increased activity of mitochondrial respiratory chain3SLC25A4 CL E G H291254892ORPHA127810990103220
HP:0012103HP:0040014Increased mitochondrial number3SLC25A4 CL E G H291254892ORPHA127810990103220
HP:0012103HP:0040013Decreased mitochondrial number3SLC25A4 CL E G H291254892ORPHA127810990103220
HP:0012103HP:0011936Decreased plasma total carnitine3SLC25A4 CL E G H291254892ORPHA127810990103220
HP:0012103HP:0030774Mitochondrial swelling3SLC25A4 CL E G H291254892ORPHA127810990103220
HP:0012103HP:0011936Decreased plasma total carnitine3TWNK CL E G H56652254892ORPHA13081160606075
HP:0012103HP:0030774Mitochondrial swelling3TWNK CL E G H56652254892ORPHA13081160606075
HP:0012103HP:0040013Decreased mitochondrial number3TWNK CL E G H56652254892ORPHA13081160606075
HP:0012103HP:0008315Decreased plasma free carnitine3TWNK CL E G H56652254892ORPHA13081160606075
HP:0012103HP:0033686Mitochondrial hypertrophy3TWNK CL E G H56652254892ORPHA13081160606075
HP:0012103HP:0008972Decreased activity of mitochondrial respiratory chain3TWNK CL E G H56652254892ORPHA13081160606075
HP:0012103HP:0040014Increased mitochondrial number3TWNK CL E G H56652254892ORPHA13081160606075
HP:0012103HP:0040015Increased activity of mitochondrial respiratory chain3TWNK CL E G H56652254892ORPHA13081160606075
HP:0012103HP:0040013Decreased mitochondrial number3TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0012103HP:0011936Decreased plasma total carnitine3TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0012103HP:0030774Mitochondrial swelling3TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0012103HP:0008972Decreased activity of mitochondrial respiratory chain3TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0012103HP:0008315Decreased plasma free carnitine3TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0012103HP:0033686Mitochondrial hypertrophy3TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0012103HP:0040015Increased activity of mitochondrial respiratory chain3TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0012103HP:0040014Increased mitochondrial number3TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0012103HP:0011923Decreased activity of mitochondrial complex I4GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA178323657603824
HP:0012103HP:0011925Decreased activity of mitochondrial ATP synthase complex4GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA178323657603824
HP:0012103HP:0008347Decreased activity of mitochondrial complex IV4GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA178323657603824
HP:0012103HP:0011924Decreased activity of mitochondrial complex III4GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA178323657603824
HP:0012103HP:0008314Decreased activity of mitochondrial complex II4GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA178323657603824
HP:0012103HP:0011924Decreased activity of mitochondrial complex III4KCNJ10 CL E G H3766199343ORPHA13356256602208
HP:0012103HP:0008314Decreased activity of mitochondrial complex II4KCNJ10 CL E G H3766199343ORPHA13356256602208
HP:0012103HP:0011923Decreased activity of mitochondrial complex I4KCNJ10 CL E G H3766199343ORPHA13356256602208
HP:0012103HP:0011925Decreased activity of mitochondrial ATP synthase complex4KCNJ10 CL E G H3766199343ORPHA13356256602208
HP:0012103HP:0008347Decreased activity of mitochondrial complex IV4KCNJ10 CL E G H3766199343ORPHA13356256602208
HP:0012103HP:0011923Decreased activity of mitochondrial complex I4PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM16899719600414
HP:0012103HP:0011925Decreased activity of mitochondrial ATP synthase complex4PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM16899719600414
HP:0012103HP:0008347Decreased activity of mitochondrial complex IV4PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM16899719600414
HP:0012103HP:0011924Decreased activity of mitochondrial complex III4PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM16899719600414
HP:0012103HP:0008314Decreased activity of mitochondrial complex II4PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM16899719600414
HP:0012103HP:0011925Decreased activity of mitochondrial ATP synthase complex4POLG CL E G H5428254892ORPHA119179179174763
HP:0012103HP:0008347Decreased activity of mitochondrial complex IV4POLG CL E G H5428254892ORPHA119179179174763
HP:0012103HP:0011924Decreased activity of mitochondrial complex III4POLG CL E G H5428254892ORPHA119179179174763
HP:0012103HP:0008314Decreased activity of mitochondrial complex II4POLG CL E G H5428254892ORPHA119179179174763
HP:0012103HP:0011923Decreased activity of mitochondrial complex I4POLG CL E G H5428254892ORPHA119179179174763
HP:0012103HP:0008314Decreased activity of mitochondrial complex II4POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0012103HP:0011923Decreased activity of mitochondrial complex I4POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0012103HP:0011925Decreased activity of mitochondrial ATP synthase complex4POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0012103HP:0008347Decreased activity of mitochondrial complex IV4POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0012103HP:0011924Decreased activity of mitochondrial complex III4POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA119179179174763
HP:0012103HP:0011923Decreased activity of mitochondrial complex I4POLG2 CL E G H11232254892ORPHA12409180604983
HP:0012103HP:0011925Decreased activity of mitochondrial ATP synthase complex4POLG2 CL E G H11232254892ORPHA12409180604983
HP:0012103HP:0008347Decreased activity of mitochondrial complex IV4POLG2 CL E G H11232254892ORPHA12409180604983
HP:0012103HP:0011924Decreased activity of mitochondrial complex III4POLG2 CL E G H11232254892ORPHA12409180604983
HP:0012103HP:0008314Decreased activity of mitochondrial complex II4POLG2 CL E G H11232254892ORPHA12409180604983
HP:0012103HP:0008314Decreased activity of mitochondrial complex II4RRM2B CL E G H50484254892ORPHA129317296604712
HP:0012103HP:0011923Decreased activity of mitochondrial complex I4RRM2B CL E G H50484254892ORPHA129317296604712
HP:0012103HP:0011925Decreased activity of mitochondrial ATP synthase complex4RRM2B CL E G H50484254892ORPHA129317296604712
HP:0012103HP:0008347Decreased activity of mitochondrial complex IV4RRM2B CL E G H50484254892ORPHA129317296604712
HP:0012103HP:0011924Decreased activity of mitochondrial complex III4RRM2B CL E G H50484254892ORPHA129317296604712
HP:0012103HP:0011924Decreased activity of mitochondrial complex III4RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0012103HP:0008314Decreased activity of mitochondrial complex II4RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0012103HP:0011923Decreased activity of mitochondrial complex I4RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0012103HP:0011925Decreased activity of mitochondrial ATP synthase complex4RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0012103HP:0008347Decreased activity of mitochondrial complex IV4RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA129317296604712
HP:0012103HP:0008314Decreased activity of mitochondrial complex II4SLC25A3 CL E G H525091130ORPHA111410989600370
HP:0012103HP:0011923Decreased activity of mitochondrial complex I4SLC25A3 CL E G H525091130ORPHA111410989600370
HP:0012103HP:0011925Decreased activity of mitochondrial ATP synthase complex4SLC25A3 CL E G H525091130ORPHA111410989600370
HP:0012103HP:0008347Decreased activity of mitochondrial complex IV4SLC25A3 CL E G H525091130ORPHA111410989600370
HP:0012103HP:0011924Decreased activity of mitochondrial complex III4SLC25A3 CL E G H525091130ORPHA111410989600370
HP:0012103HP:0011924Decreased activity of mitochondrial complex III4SLC25A4 CL E G H291254892ORPHA127810990103220
HP:0012103HP:0008314Decreased activity of mitochondrial complex II4SLC25A4 CL E G H291254892ORPHA127810990103220
HP:0012103HP:0011923Decreased activity of mitochondrial complex I4SLC25A4 CL E G H291254892ORPHA127810990103220
HP:0012103HP:0011925Decreased activity of mitochondrial ATP synthase complex4SLC25A4 CL E G H291254892ORPHA127810990103220
HP:0012103HP:0008347Decreased activity of mitochondrial complex IV4SLC25A4 CL E G H291254892ORPHA127810990103220
HP:0012103HP:0011925Decreased activity of mitochondrial ATP synthase complex4TWNK CL E G H56652254892ORPHA13081160606075
HP:0012103HP:0008347Decreased activity of mitochondrial complex IV4TWNK CL E G H56652254892ORPHA13081160606075
HP:0012103HP:0011924Decreased activity of mitochondrial complex III4TWNK CL E G H56652254892ORPHA13081160606075
HP:0012103HP:0008314Decreased activity of mitochondrial complex II4TWNK CL E G H56652254892ORPHA13081160606075
HP:0012103HP:0011923Decreased activity of mitochondrial complex I4TWNK CL E G H56652254892ORPHA13081160606075
HP:0012103HP:0011925Decreased activity of mitochondrial ATP synthase complex4TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0012103HP:0008347Decreased activity of mitochondrial complex IV4TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0012103HP:0011924Decreased activity of mitochondrial complex III4TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0012103HP:0008314Decreased activity of mitochondrial complex II4TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
HP:0012103HP:0011923Decreased activity of mitochondrial complex I4TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18033148131222
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (140) :ACAD8 ACAD9 ACADL ACADM ACADVL AFG3L2 AK2 ATP5F1E ATP6 BOLA3 C9ORF72 CAMKMT CHCHD10 COX1 COX15 COX2 COX3 CPT2 CTNS CYBA CYBB CYTB DGUOK DLAT DLD DNA2 DNMT1 EARS2 ECHS1 ETFA ETFB ETFDH FBXL4 FOXRED1 FUS FXN GFER GLRX5 GNE GYG1 HADH HADHA HMGCL HSD17B10 IBA57 ISCU KCNJ10 LIPT1 MGME1 MTFMT MYH14 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 PEX5 POLG POLG2 PPM1B PREPL RRM2B SDHA SDHAF1 SDHD SLC19A3 SLC22A5 SLC25A20 SLC25A26 SLC25A3 SLC25A4 SLC3A1 SPG7 SQSTM1 SUCLA2 SURF1 TACO1 TARDBP TAZ TBK1 TIMMDC1 TK2 TMEM126B TRMT5 TRMU TRNE TRNF TRNH TRNL1 TRNL2 TRNN TRNQ TRNS1 TRNS2 TRNW TSFM TTN TWNK TXN2 TYMP VCP

Diseases (78) :3166 199343 214110 254892 298 91130 33355 275872 550 314404 300438 615330 99013 302060 111 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 610773 616539 254864 613070 663 611705 614299 457050 608836 251880 352470 613076 263297 352447 397744 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.