Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of metabolism/homeostasis (HP:0001939)help
Parent Node:
expand
Abnormal cellular physiology (HP:0011017)help
..Starting node
..expand
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 syndromeORPHA168223657603824
HP:0012103HP:0012103Abnormality of the mitochondrion0GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA160423657603824
HP:0012103HP:0012103Abnormality of the mitochondrion0KCNJ10 CL E G H3766199343ORPHA13196256602208
HP:0012103HP:0012103Abnormality of the mitochondrion0KCNJ10 CL E G H3766199343ORPHA12896256602208
HP:0012103HP:0012103Abnormality of the mitochondrion0PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM15639719600414
HP:0012103HP:0012103Abnormality of the mitochondrion0PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM14069719600414
HP:0012103HP:0012103Abnormality of the mitochondrion0POLG CL E G H5428254892ORPHA117129179174763
HP:0012103HP:0012103Abnormality of the mitochondrion0POLG CL E G H5428254892ORPHA114709179174763
HP:0012103HP:0012103Abnormality of the mitochondrion0POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA117129179174763
HP:0012103HP:0012103Abnormality of the mitochondrion0POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA114709179174763
HP:0012103HP:0012103Abnormality of the mitochondrion0POLG2 CL E G H11232254892ORPHA11339180604983
HP:0012103HP:0012103Abnormality of the mitochondrion0POLG2 CL E G H11232254892ORPHA12049180604983
HP:0012103HP:0012103Abnormality of the mitochondrion0RRM2B CL E G H50484254892ORPHA127217296604712
HP:0012103HP:0012103Abnormality of the mitochondrion0RRM2B CL E G H50484254892ORPHA126117296604712
HP:0012103HP:0012103Abnormality of the mitochondrion0RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA127217296604712
HP:0012103HP:0012103Abnormality of the mitochondrion0RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA126117296604712
HP:0012103HP:0012103Abnormality of the mitochondrion0SLC25A3 CL E G H525091130ORPHA110910989600370
HP:0012103HP:0012103Abnormality of the mitochondrion0SLC25A3 CL E G H525091130ORPHA110410989600370
HP:0012103HP:0012103Abnormality of the mitochondrion0SLC25A4 CL E G H291254892ORPHA125410990103220
HP:0012103HP:0012103Abnormality of the mitochondrion0SLC25A4 CL E G H291254892ORPHA126110990103220
HP:0012103HP:0012103Abnormality of the mitochondrion0TWNK CL E G H56652254892ORPHA12701160606075
HP:0012103HP:0012103Abnormality of the mitochondrion0TWNK CL E G H56652254892ORPHA12341160606075
HP:0012103HP:0012103Abnormality of the mitochondrion0TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA16653148131222
HP:0012103HP:0012103Abnormality of the mitochondrion0TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA15503148131222
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA168223657603824
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA160423657603824
HP:0012103HP:0008322Abnormal mitochondrial morphology1GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA168223657603824
HP:0012103HP:0008322Abnormal mitochondrial morphology1GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA160423657603824
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1KCNJ10 CL E G H3766199343ORPHA13196256602208
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1KCNJ10 CL E G H3766199343ORPHA12896256602208
HP:0012103HP:0008322Abnormal mitochondrial morphology1KCNJ10 CL E G H3766199343ORPHA13196256602208
HP:0012103HP:0008322Abnormal mitochondrial morphology1KCNJ10 CL E G H3766199343ORPHA12896256602208
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM15639719600414
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM14069719600414
HP:0012103HP:0008322Abnormal mitochondrial morphology1PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM15639719600414
HP:0012103HP:0008322Abnormal mitochondrial morphology1PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM14069719600414
HP:0012103HP:0008322Abnormal mitochondrial morphology1POLG CL E G H5428254892ORPHA117129179174763
HP:0012103HP:0008322Abnormal mitochondrial morphology1POLG CL E G H5428254892ORPHA114709179174763
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1POLG CL E G H5428254892ORPHA117129179174763
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1POLG CL E G H5428254892ORPHA114709179174763
HP:0012103HP:0008322Abnormal mitochondrial morphology1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA117129179174763
HP:0012103HP:0008322Abnormal mitochondrial morphology1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA114709179174763
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA117129179174763
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA114709179174763
HP:0012103HP:0008322Abnormal mitochondrial morphology1POLG2 CL E G H11232254892ORPHA11339180604983
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1POLG2 CL E G H11232254892ORPHA12049180604983
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1POLG2 CL E G H11232254892ORPHA11339180604983
HP:0012103HP:0008322Abnormal mitochondrial morphology1POLG2 CL E G H11232254892ORPHA12049180604983
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1RRM2B CL E G H50484254892ORPHA126117296604712
HP:0012103HP:0008322Abnormal mitochondrial morphology1RRM2B CL E G H50484254892ORPHA127217296604712
HP:0012103HP:0008322Abnormal mitochondrial morphology1RRM2B CL E G H50484254892ORPHA126117296604712
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1RRM2B CL E G H50484254892ORPHA127217296604712
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA127217296604712
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA126117296604712
HP:0012103HP:0008322Abnormal mitochondrial morphology1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA127217296604712
HP:0012103HP:0008322Abnormal mitochondrial morphology1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA126117296604712
HP:0012103HP:0008322Abnormal mitochondrial morphology1SLC25A3 CL E G H525091130ORPHA110910989600370
HP:0012103HP:0008322Abnormal mitochondrial morphology1SLC25A3 CL E G H525091130ORPHA110410989600370
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1SLC25A3 CL E G H525091130ORPHA110910989600370
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1SLC25A3 CL E G H525091130ORPHA110410989600370
HP:0012103HP:0008322Abnormal mitochondrial morphology1SLC25A4 CL E G H291254892ORPHA125410990103220
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1SLC25A4 CL E G H291254892ORPHA126110990103220
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1SLC25A4 CL E G H291254892ORPHA125410990103220
HP:0012103HP:0008322Abnormal mitochondrial morphology1SLC25A4 CL E G H291254892ORPHA126110990103220
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1TWNK CL E G H56652254892ORPHA12341160606075
HP:0012103HP:0008322Abnormal mitochondrial morphology1TWNK CL E G H56652254892ORPHA12701160606075
HP:0012103HP:0008322Abnormal mitochondrial morphology1TWNK CL E G H56652254892ORPHA12341160606075
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1TWNK CL E G H56652254892ORPHA12701160606075
HP:0012103HP:0008322Abnormal mitochondrial morphology1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA16653148131222
HP:0012103HP:0008322Abnormal mitochondrial morphology1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA15503148131222
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA16653148131222
HP:0012103HP:0003287Abnormality of mitochondrial metabolism1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA15503148131222
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA168223657603824
HP:0012103HP:0012102Abnormal mitochondrial number2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA168223657603824
HP:0012103HP:0200125Mitochondrial respiratory chain defects2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA168223657603824
HP:0012103HP:0003514Deficiency or absence of cytochrome b(-245)2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA168223657603824
HP:0012103HP:0030059Mitochondrial depletion2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA168223657603824
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA168223657603824
HP:0012103HP:0003232Mitochondrial malic enzyme reduced2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA168223657603824
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA160423657603824
HP:0012103HP:0012102Abnormal mitochondrial number2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA160423657603824
HP:0012103HP:0200125Mitochondrial respiratory chain defects2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA160423657603824
HP:0012103HP:0003514Deficiency or absence of cytochrome b(-245)2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA160423657603824
HP:0012103HP:0030059Mitochondrial depletion2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA160423657603824
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA160423657603824
HP:0012103HP:0003232Mitochondrial malic enzyme reduced2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA160423657603824
HP:0012103HP:0003288Mitochondrial propionyl-CoA carboxylase defect2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA168223657603824
HP:0012103HP:0003234Decreased plasma carnitine2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA168223657603824
HP:0012103HP:0012087Abnormal mitochondrial shape2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA168223657603824
HP:0012103HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA168223657603824
HP:0012103HP:0008306Abnormal iron deposition in mitochondria2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA168223657603824
HP:0012103HP:0008265Mitochondrial lysine transport defect2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA168223657603824
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA168223657603824
HP:0012103HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA168223657603824
HP:0012103HP:0003234Decreased plasma carnitine2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA160423657603824
HP:0012103HP:0012087Abnormal mitochondrial shape2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA160423657603824
HP:0012103HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA160423657603824
HP:0012103HP:0008306Abnormal iron deposition in mitochondria2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA160423657603824
HP:0012103HP:0008265Mitochondrial lysine transport defect2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA160423657603824
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA160423657603824
HP:0012103HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA160423657603824
HP:0012103HP:0003288Mitochondrial propionyl-CoA carboxylase defect2GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA160423657603824
HP:0012103HP:0003514Deficiency or absence of cytochrome b(-245)2KCNJ10 CL E G H3766199343ORPHA13196256602208
HP:0012103HP:0030059Mitochondrial depletion2KCNJ10 CL E G H3766199343ORPHA13196256602208
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2KCNJ10 CL E G H3766199343ORPHA13196256602208
HP:0012103HP:0003232Mitochondrial malic enzyme reduced2KCNJ10 CL E G H3766199343ORPHA13196256602208
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2KCNJ10 CL E G H3766199343ORPHA13196256602208
HP:0012103HP:0012102Abnormal mitochondrial number2KCNJ10 CL E G H3766199343ORPHA13196256602208
HP:0012103HP:0200125Mitochondrial respiratory chain defects2KCNJ10 CL E G H3766199343ORPHA13196256602208
HP:0012103HP:0003514Deficiency or absence of cytochrome b(-245)2KCNJ10 CL E G H3766199343ORPHA12896256602208
HP:0012103HP:0030059Mitochondrial depletion2KCNJ10 CL E G H3766199343ORPHA12896256602208
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2KCNJ10 CL E G H3766199343ORPHA12896256602208
HP:0012103HP:0003232Mitochondrial malic enzyme reduced2KCNJ10 CL E G H3766199343ORPHA12896256602208
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2KCNJ10 CL E G H3766199343ORPHA12896256602208
HP:0012103HP:0012102Abnormal mitochondrial number2KCNJ10 CL E G H3766199343ORPHA12896256602208
HP:0012103HP:0200125Mitochondrial respiratory chain defects2KCNJ10 CL E G H3766199343ORPHA12896256602208
HP:0012103HP:0012087Abnormal mitochondrial shape2KCNJ10 CL E G H3766199343ORPHA13196256602208
HP:0012103HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect2KCNJ10 CL E G H3766199343ORPHA13196256602208
HP:0012103HP:0008306Abnormal iron deposition in mitochondria2KCNJ10 CL E G H3766199343ORPHA13196256602208
HP:0012103HP:0008265Mitochondrial lysine transport defect2KCNJ10 CL E G H3766199343ORPHA13196256602208
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2KCNJ10 CL E G H3766199343ORPHA13196256602208
HP:0012103HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level2KCNJ10 CL E G H3766199343ORPHA13196256602208
HP:0012103HP:0003288Mitochondrial propionyl-CoA carboxylase defect2KCNJ10 CL E G H3766199343ORPHA13196256602208
HP:0012103HP:0003234Decreased plasma carnitine2KCNJ10 CL E G H3766199343ORPHA13196256602208
HP:0012103HP:0012087Abnormal mitochondrial shape2KCNJ10 CL E G H3766199343ORPHA12896256602208
HP:0012103HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect2KCNJ10 CL E G H3766199343ORPHA12896256602208
HP:0012103HP:0008306Abnormal iron deposition in mitochondria2KCNJ10 CL E G H3766199343ORPHA12896256602208
HP:0012103HP:0008265Mitochondrial lysine transport defect2KCNJ10 CL E G H3766199343ORPHA12896256602208
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2KCNJ10 CL E G H3766199343ORPHA12896256602208
HP:0012103HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level2KCNJ10 CL E G H3766199343ORPHA12896256602208
HP:0012103HP:0003288Mitochondrial propionyl-CoA carboxylase defect2KCNJ10 CL E G H3766199343ORPHA12896256602208
HP:0012103HP:0003234Decreased plasma carnitine2KCNJ10 CL E G H3766199343ORPHA12896256602208
HP:0012103HP:0003514Deficiency or absence of cytochrome b(-245)2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM15639719600414
HP:0012103HP:0030059Mitochondrial depletion2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM15639719600414
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM15639719600414
HP:0012103HP:0003232Mitochondrial malic enzyme reduced2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM15639719600414
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM15639719600414
HP:0012103HP:0012102Abnormal mitochondrial number2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM15639719600414
HP:0012103HP:0200125Mitochondrial respiratory chain defects2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM15639719600414
HP:0012103HP:0003514Deficiency or absence of cytochrome b(-245)2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM14069719600414
HP:0012103HP:0030059Mitochondrial depletion2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM14069719600414
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM14069719600414
HP:0012103HP:0003232Mitochondrial malic enzyme reduced2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM14069719600414
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM14069719600414
HP:0012103HP:0012102Abnormal mitochondrial number2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM14069719600414
HP:0012103HP:0200125Mitochondrial respiratory chain defects2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM14069719600414
HP:0012103HP:0012087Abnormal mitochondrial shape2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM15639719600414
HP:0012103HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM15639719600414
HP:0012103HP:0008306Abnormal iron deposition in mitochondria2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM15639719600414
HP:0012103HP:0008265Mitochondrial lysine transport defect2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM15639719600414
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM15639719600414
HP:0012103HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM15639719600414
HP:0012103HP:0003288Mitochondrial propionyl-CoA carboxylase defect2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM15639719600414
HP:0012103HP:0003234Decreased plasma carnitine2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM15639719600414
HP:0012103HP:0012087Abnormal mitochondrial shape2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM14069719600414
HP:0012103HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM14069719600414
HP:0012103HP:0008306Abnormal iron deposition in mitochondria2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM14069719600414
HP:0012103HP:0008265Mitochondrial lysine transport defect2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM14069719600414
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM14069719600414
HP:0012103HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM14069719600414
HP:0012103HP:0003288Mitochondrial propionyl-CoA carboxylase defect2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM14069719600414
HP:0012103HP:0003234Decreased plasma carnitine2PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM14069719600414
HP:0012103HP:0200125Mitochondrial respiratory chain defects2POLG CL E G H5428254892ORPHA114709179174763
HP:0012103HP:0003514Deficiency or absence of cytochrome b(-245)2POLG CL E G H5428254892ORPHA114709179174763
HP:0012103HP:0030059Mitochondrial depletion2POLG CL E G H5428254892ORPHA114709179174763
HP:0012103HP:0003232Mitochondrial malic enzyme reduced2POLG CL E G H5428254892ORPHA114709179174763
HP:0012103HP:0012087Abnormal mitochondrial shape2POLG CL E G H5428254892ORPHA117129179174763
HP:0012103HP:0008306Abnormal iron deposition in mitochondria2POLG CL E G H5428254892ORPHA117129179174763
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2POLG CL E G H5428254892ORPHA117129179174763
HP:0012103HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level2POLG CL E G H5428254892ORPHA117129179174763
HP:0012103HP:0003288Mitochondrial propionyl-CoA carboxylase defect2POLG CL E G H5428254892ORPHA117129179174763
HP:0012103HP:0003234Decreased plasma carnitine2POLG CL E G H5428254892ORPHA117129179174763
HP:0012103HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect2POLG CL E G H5428254892ORPHA117129179174763
HP:0012103HP:0008265Mitochondrial lysine transport defect2POLG CL E G H5428254892ORPHA117129179174763
HP:0012103HP:0012087Abnormal mitochondrial shape2POLG CL E G H5428254892ORPHA114709179174763
HP:0012103HP:0008306Abnormal iron deposition in mitochondria2POLG CL E G H5428254892ORPHA114709179174763
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2POLG CL E G H5428254892ORPHA114709179174763
HP:0012103HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level2POLG CL E G H5428254892ORPHA114709179174763
HP:0012103HP:0003234Decreased plasma carnitine2POLG CL E G H5428254892ORPHA114709179174763
HP:0012103HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect2POLG CL E G H5428254892ORPHA114709179174763
HP:0012103HP:0008265Mitochondrial lysine transport defect2POLG CL E G H5428254892ORPHA114709179174763
HP:0012103HP:0003288Mitochondrial propionyl-CoA carboxylase defect2POLG CL E G H5428254892ORPHA114709179174763
HP:0012103HP:0012102Abnormal mitochondrial number2POLG CL E G H5428254892ORPHA117129179174763
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2POLG CL E G H5428254892ORPHA117129179174763
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2POLG CL E G H5428254892ORPHA117129179174763
HP:0012103HP:0200125Mitochondrial respiratory chain defects2POLG CL E G H5428254892ORPHA117129179174763
HP:0012103HP:0003514Deficiency or absence of cytochrome b(-245)2POLG CL E G H5428254892ORPHA117129179174763
HP:0012103HP:0030059Mitochondrial depletion2POLG CL E G H5428254892ORPHA117129179174763
HP:0012103HP:0003232Mitochondrial malic enzyme reduced2POLG CL E G H5428254892ORPHA117129179174763
HP:0012103HP:0012102Abnormal mitochondrial number2POLG CL E G H5428254892ORPHA114709179174763
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2POLG CL E G H5428254892ORPHA114709179174763
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2POLG CL E G H5428254892ORPHA114709179174763
HP:0012103HP:0003288Mitochondrial propionyl-CoA carboxylase defect2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA117129179174763
HP:0012103HP:0003234Decreased plasma carnitine2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA117129179174763
HP:0012103HP:0012087Abnormal mitochondrial shape2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA117129179174763
HP:0012103HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA117129179174763
HP:0012103HP:0008306Abnormal iron deposition in mitochondria2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA117129179174763
HP:0012103HP:0008265Mitochondrial lysine transport defect2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA117129179174763
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA117129179174763
HP:0012103HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA117129179174763
HP:0012103HP:0003234Decreased plasma carnitine2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA114709179174763
HP:0012103HP:0012087Abnormal mitochondrial shape2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA114709179174763
HP:0012103HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA114709179174763
HP:0012103HP:0008306Abnormal iron deposition in mitochondria2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA114709179174763
HP:0012103HP:0008265Mitochondrial lysine transport defect2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA114709179174763
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA114709179174763
HP:0012103HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA114709179174763
HP:0012103HP:0003288Mitochondrial propionyl-CoA carboxylase defect2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA114709179174763
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA117129179174763
HP:0012103HP:0012102Abnormal mitochondrial number2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA117129179174763
HP:0012103HP:0200125Mitochondrial respiratory chain defects2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA117129179174763
HP:0012103HP:0003514Deficiency or absence of cytochrome b(-245)2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA117129179174763
HP:0012103HP:0030059Mitochondrial depletion2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA117129179174763
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA117129179174763
HP:0012103HP:0003232Mitochondrial malic enzyme reduced2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA117129179174763
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA114709179174763
HP:0012103HP:0012102Abnormal mitochondrial number2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA114709179174763
HP:0012103HP:0200125Mitochondrial respiratory chain defects2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA114709179174763
HP:0012103HP:0003514Deficiency or absence of cytochrome b(-245)2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA114709179174763
HP:0012103HP:0030059Mitochondrial depletion2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA114709179174763
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA114709179174763
HP:0012103HP:0003232Mitochondrial malic enzyme reduced2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA114709179174763
HP:0012103HP:0008306Abnormal iron deposition in mitochondria2POLG2 CL E G H11232254892ORPHA11339180604983
HP:0012103HP:0008265Mitochondrial lysine transport defect2POLG2 CL E G H11232254892ORPHA11339180604983
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2POLG2 CL E G H11232254892ORPHA11339180604983
HP:0012103HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level2POLG2 CL E G H11232254892ORPHA11339180604983
HP:0012103HP:0003288Mitochondrial propionyl-CoA carboxylase defect2POLG2 CL E G H11232254892ORPHA11339180604983
HP:0012103HP:0003234Decreased plasma carnitine2POLG2 CL E G H11232254892ORPHA11339180604983
HP:0012103HP:0012087Abnormal mitochondrial shape2POLG2 CL E G H11232254892ORPHA11339180604983
HP:0012103HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect2POLG2 CL E G H11232254892ORPHA11339180604983
HP:0012103HP:0030059Mitochondrial depletion2POLG2 CL E G H11232254892ORPHA12049180604983
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2POLG2 CL E G H11232254892ORPHA12049180604983
HP:0012103HP:0003232Mitochondrial malic enzyme reduced2POLG2 CL E G H11232254892ORPHA12049180604983
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2POLG2 CL E G H11232254892ORPHA12049180604983
HP:0012103HP:0012102Abnormal mitochondrial number2POLG2 CL E G H11232254892ORPHA12049180604983
HP:0012103HP:0200125Mitochondrial respiratory chain defects2POLG2 CL E G H11232254892ORPHA12049180604983
HP:0012103HP:0003514Deficiency or absence of cytochrome b(-245)2POLG2 CL E G H11232254892ORPHA12049180604983
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2POLG2 CL E G H11232254892ORPHA11339180604983
HP:0012103HP:0003232Mitochondrial malic enzyme reduced2POLG2 CL E G H11232254892ORPHA11339180604983
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2POLG2 CL E G H11232254892ORPHA11339180604983
HP:0012103HP:0012102Abnormal mitochondrial number2POLG2 CL E G H11232254892ORPHA11339180604983
HP:0012103HP:0200125Mitochondrial respiratory chain defects2POLG2 CL E G H11232254892ORPHA11339180604983
HP:0012103HP:0003514Deficiency or absence of cytochrome b(-245)2POLG2 CL E G H11232254892ORPHA11339180604983
HP:0012103HP:0030059Mitochondrial depletion2POLG2 CL E G H11232254892ORPHA11339180604983
HP:0012103HP:0008306Abnormal iron deposition in mitochondria2POLG2 CL E G H11232254892ORPHA12049180604983
HP:0012103HP:0008265Mitochondrial lysine transport defect2POLG2 CL E G H11232254892ORPHA12049180604983
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2POLG2 CL E G H11232254892ORPHA12049180604983
HP:0012103HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level2POLG2 CL E G H11232254892ORPHA12049180604983
HP:0012103HP:0003288Mitochondrial propionyl-CoA carboxylase defect2POLG2 CL E G H11232254892ORPHA12049180604983
HP:0012103HP:0003234Decreased plasma carnitine2POLG2 CL E G H11232254892ORPHA12049180604983
HP:0012103HP:0012087Abnormal mitochondrial shape2POLG2 CL E G H11232254892ORPHA12049180604983
HP:0012103HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect2POLG2 CL E G H11232254892ORPHA12049180604983
HP:0012103HP:0003514Deficiency or absence of cytochrome b(-245)2RRM2B CL E G H50484254892ORPHA126117296604712
HP:0012103HP:0030059Mitochondrial depletion2RRM2B CL E G H50484254892ORPHA126117296604712
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2RRM2B CL E G H50484254892ORPHA126117296604712
HP:0012103HP:0003232Mitochondrial malic enzyme reduced2RRM2B CL E G H50484254892ORPHA126117296604712
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2RRM2B CL E G H50484254892ORPHA126117296604712
HP:0012103HP:0012102Abnormal mitochondrial number2RRM2B CL E G H50484254892ORPHA126117296604712
HP:0012103HP:0200125Mitochondrial respiratory chain defects2RRM2B CL E G H50484254892ORPHA126117296604712
HP:0012103HP:0012087Abnormal mitochondrial shape2RRM2B CL E G H50484254892ORPHA127217296604712
HP:0012103HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect2RRM2B CL E G H50484254892ORPHA127217296604712
HP:0012103HP:0008306Abnormal iron deposition in mitochondria2RRM2B CL E G H50484254892ORPHA127217296604712
HP:0012103HP:0008265Mitochondrial lysine transport defect2RRM2B CL E G H50484254892ORPHA127217296604712
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2RRM2B CL E G H50484254892ORPHA127217296604712
HP:0012103HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level2RRM2B CL E G H50484254892ORPHA127217296604712
HP:0012103HP:0003288Mitochondrial propionyl-CoA carboxylase defect2RRM2B CL E G H50484254892ORPHA127217296604712
HP:0012103HP:0003234Decreased plasma carnitine2RRM2B CL E G H50484254892ORPHA127217296604712
HP:0012103HP:0012087Abnormal mitochondrial shape2RRM2B CL E G H50484254892ORPHA126117296604712
HP:0012103HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect2RRM2B CL E G H50484254892ORPHA126117296604712
HP:0012103HP:0008306Abnormal iron deposition in mitochondria2RRM2B CL E G H50484254892ORPHA126117296604712
HP:0012103HP:0008265Mitochondrial lysine transport defect2RRM2B CL E G H50484254892ORPHA126117296604712
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2RRM2B CL E G H50484254892ORPHA126117296604712
HP:0012103HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level2RRM2B CL E G H50484254892ORPHA126117296604712
HP:0012103HP:0003288Mitochondrial propionyl-CoA carboxylase defect2RRM2B CL E G H50484254892ORPHA126117296604712
HP:0012103HP:0003234Decreased plasma carnitine2RRM2B CL E G H50484254892ORPHA126117296604712
HP:0012103HP:0003514Deficiency or absence of cytochrome b(-245)2RRM2B CL E G H50484254892ORPHA127217296604712
HP:0012103HP:0030059Mitochondrial depletion2RRM2B CL E G H50484254892ORPHA127217296604712
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2RRM2B CL E G H50484254892ORPHA127217296604712
HP:0012103HP:0003232Mitochondrial malic enzyme reduced2RRM2B CL E G H50484254892ORPHA127217296604712
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2RRM2B CL E G H50484254892ORPHA127217296604712
HP:0012103HP:0012102Abnormal mitochondrial number2RRM2B CL E G H50484254892ORPHA127217296604712
HP:0012103HP:0200125Mitochondrial respiratory chain defects2RRM2B CL E G H50484254892ORPHA127217296604712
HP:0012103HP:0030059Mitochondrial depletion2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA127217296604712
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA127217296604712
HP:0012103HP:0003232Mitochondrial malic enzyme reduced2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA127217296604712
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA127217296604712
HP:0012103HP:0012102Abnormal mitochondrial number2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA127217296604712
HP:0012103HP:0200125Mitochondrial respiratory chain defects2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA127217296604712
HP:0012103HP:0003514Deficiency or absence of cytochrome b(-245)2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA127217296604712
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA126117296604712
HP:0012103HP:0003232Mitochondrial malic enzyme reduced2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA126117296604712
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA126117296604712
HP:0012103HP:0012102Abnormal mitochondrial number2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA126117296604712
HP:0012103HP:0200125Mitochondrial respiratory chain defects2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA126117296604712
HP:0012103HP:0003514Deficiency or absence of cytochrome b(-245)2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA126117296604712
HP:0012103HP:0030059Mitochondrial depletion2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA126117296604712
HP:0012103HP:0008306Abnormal iron deposition in mitochondria2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA127217296604712
HP:0012103HP:0008265Mitochondrial lysine transport defect2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA127217296604712
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA127217296604712
HP:0012103HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA127217296604712
HP:0012103HP:0003288Mitochondrial propionyl-CoA carboxylase defect2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA127217296604712
HP:0012103HP:0003234Decreased plasma carnitine2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA127217296604712
HP:0012103HP:0012087Abnormal mitochondrial shape2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA127217296604712
HP:0012103HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA127217296604712
HP:0012103HP:0008306Abnormal iron deposition in mitochondria2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA126117296604712
HP:0012103HP:0008265Mitochondrial lysine transport defect2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA126117296604712
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA126117296604712
HP:0012103HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA126117296604712
HP:0012103HP:0003288Mitochondrial propionyl-CoA carboxylase defect2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA126117296604712
HP:0012103HP:0003234Decreased plasma carnitine2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA126117296604712
HP:0012103HP:0012087Abnormal mitochondrial shape2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA126117296604712
HP:0012103HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA126117296604712
HP:0012103HP:0008306Abnormal iron deposition in mitochondria2SLC25A3 CL E G H525091130ORPHA110910989600370
HP:0012103HP:0008265Mitochondrial lysine transport defect2SLC25A3 CL E G H525091130ORPHA110910989600370
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2SLC25A3 CL E G H525091130ORPHA110910989600370
HP:0012103HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level2SLC25A3 CL E G H525091130ORPHA110910989600370
HP:0012103HP:0003288Mitochondrial propionyl-CoA carboxylase defect2SLC25A3 CL E G H525091130ORPHA110910989600370
HP:0012103HP:0003234Decreased plasma carnitine2SLC25A3 CL E G H525091130ORPHA110910989600370
HP:0012103HP:0012087Abnormal mitochondrial shape2SLC25A3 CL E G H525091130ORPHA110910989600370
HP:0012103HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect2SLC25A3 CL E G H525091130ORPHA110910989600370
HP:0012103HP:0008306Abnormal iron deposition in mitochondria2SLC25A3 CL E G H525091130ORPHA110410989600370
HP:0012103HP:0008265Mitochondrial lysine transport defect2SLC25A3 CL E G H525091130ORPHA110410989600370
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2SLC25A3 CL E G H525091130ORPHA110410989600370
HP:0012103HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level2SLC25A3 CL E G H525091130ORPHA110410989600370
HP:0012103HP:0003288Mitochondrial propionyl-CoA carboxylase defect2SLC25A3 CL E G H525091130ORPHA110410989600370
HP:0012103HP:0003234Decreased plasma carnitine2SLC25A3 CL E G H525091130ORPHA110410989600370
HP:0012103HP:0012087Abnormal mitochondrial shape2SLC25A3 CL E G H525091130ORPHA110410989600370
HP:0012103HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect2SLC25A3 CL E G H525091130ORPHA110410989600370
HP:0012103HP:0030059Mitochondrial depletion2SLC25A3 CL E G H525091130ORPHA110910989600370
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2SLC25A3 CL E G H525091130ORPHA110910989600370
HP:0012103HP:0003232Mitochondrial malic enzyme reduced2SLC25A3 CL E G H525091130ORPHA110910989600370
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2SLC25A3 CL E G H525091130ORPHA110910989600370
HP:0012103HP:0012102Abnormal mitochondrial number2SLC25A3 CL E G H525091130ORPHA110910989600370
HP:0012103HP:0200125Mitochondrial respiratory chain defects2SLC25A3 CL E G H525091130ORPHA110910989600370
HP:0012103HP:0003514Deficiency or absence of cytochrome b(-245)2SLC25A3 CL E G H525091130ORPHA110910989600370
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2SLC25A3 CL E G H525091130ORPHA110410989600370
HP:0012103HP:0003232Mitochondrial malic enzyme reduced2SLC25A3 CL E G H525091130ORPHA110410989600370
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2SLC25A3 CL E G H525091130ORPHA110410989600370
HP:0012103HP:0012102Abnormal mitochondrial number2SLC25A3 CL E G H525091130ORPHA110410989600370
HP:0012103HP:0200125Mitochondrial respiratory chain defects2SLC25A3 CL E G H525091130ORPHA110410989600370
HP:0012103HP:0003514Deficiency or absence of cytochrome b(-245)2SLC25A3 CL E G H525091130ORPHA110410989600370
HP:0012103HP:0030059Mitochondrial depletion2SLC25A3 CL E G H525091130ORPHA110410989600370
HP:0012103HP:0003234Decreased plasma carnitine2SLC25A4 CL E G H291254892ORPHA125410990103220
HP:0012103HP:0012087Abnormal mitochondrial shape2SLC25A4 CL E G H291254892ORPHA125410990103220
HP:0012103HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect2SLC25A4 CL E G H291254892ORPHA125410990103220
HP:0012103HP:0008306Abnormal iron deposition in mitochondria2SLC25A4 CL E G H291254892ORPHA125410990103220
HP:0012103HP:0008265Mitochondrial lysine transport defect2SLC25A4 CL E G H291254892ORPHA125410990103220
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2SLC25A4 CL E G H291254892ORPHA125410990103220
HP:0012103HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level2SLC25A4 CL E G H291254892ORPHA125410990103220
HP:0012103HP:0003288Mitochondrial propionyl-CoA carboxylase defect2SLC25A4 CL E G H291254892ORPHA125410990103220
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2SLC25A4 CL E G H291254892ORPHA126110990103220
HP:0012103HP:0012102Abnormal mitochondrial number2SLC25A4 CL E G H291254892ORPHA126110990103220
HP:0012103HP:0200125Mitochondrial respiratory chain defects2SLC25A4 CL E G H291254892ORPHA126110990103220
HP:0012103HP:0003514Deficiency or absence of cytochrome b(-245)2SLC25A4 CL E G H291254892ORPHA126110990103220
HP:0012103HP:0030059Mitochondrial depletion2SLC25A4 CL E G H291254892ORPHA126110990103220
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2SLC25A4 CL E G H291254892ORPHA126110990103220
HP:0012103HP:0003232Mitochondrial malic enzyme reduced2SLC25A4 CL E G H291254892ORPHA126110990103220
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2SLC25A4 CL E G H291254892ORPHA125410990103220
HP:0012103HP:0012102Abnormal mitochondrial number2SLC25A4 CL E G H291254892ORPHA125410990103220
HP:0012103HP:0200125Mitochondrial respiratory chain defects2SLC25A4 CL E G H291254892ORPHA125410990103220
HP:0012103HP:0003514Deficiency or absence of cytochrome b(-245)2SLC25A4 CL E G H291254892ORPHA125410990103220
HP:0012103HP:0030059Mitochondrial depletion2SLC25A4 CL E G H291254892ORPHA125410990103220
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2SLC25A4 CL E G H291254892ORPHA125410990103220
HP:0012103HP:0003232Mitochondrial malic enzyme reduced2SLC25A4 CL E G H291254892ORPHA125410990103220
HP:0012103HP:0003288Mitochondrial propionyl-CoA carboxylase defect2SLC25A4 CL E G H291254892ORPHA126110990103220
HP:0012103HP:0003234Decreased plasma carnitine2SLC25A4 CL E G H291254892ORPHA126110990103220
HP:0012103HP:0012087Abnormal mitochondrial shape2SLC25A4 CL E G H291254892ORPHA126110990103220
HP:0012103HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect2SLC25A4 CL E G H291254892ORPHA126110990103220
HP:0012103HP:0008306Abnormal iron deposition in mitochondria2SLC25A4 CL E G H291254892ORPHA126110990103220
HP:0012103HP:0008265Mitochondrial lysine transport defect2SLC25A4 CL E G H291254892ORPHA126110990103220
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2SLC25A4 CL E G H291254892ORPHA126110990103220
HP:0012103HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level2SLC25A4 CL E G H291254892ORPHA126110990103220
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2TWNK CL E G H56652254892ORPHA12341160606075
HP:0012103HP:0003232Mitochondrial malic enzyme reduced2TWNK CL E G H56652254892ORPHA12341160606075
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2TWNK CL E G H56652254892ORPHA12341160606075
HP:0012103HP:0012102Abnormal mitochondrial number2TWNK CL E G H56652254892ORPHA12341160606075
HP:0012103HP:0200125Mitochondrial respiratory chain defects2TWNK CL E G H56652254892ORPHA12341160606075
HP:0012103HP:0003514Deficiency or absence of cytochrome b(-245)2TWNK CL E G H56652254892ORPHA12341160606075
HP:0012103HP:0030059Mitochondrial depletion2TWNK CL E G H56652254892ORPHA12341160606075
HP:0012103HP:0008306Abnormal iron deposition in mitochondria2TWNK CL E G H56652254892ORPHA12701160606075
HP:0012103HP:0008265Mitochondrial lysine transport defect2TWNK CL E G H56652254892ORPHA12701160606075
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2TWNK CL E G H56652254892ORPHA12701160606075
HP:0012103HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level2TWNK CL E G H56652254892ORPHA12701160606075
HP:0012103HP:0003288Mitochondrial propionyl-CoA carboxylase defect2TWNK CL E G H56652254892ORPHA12701160606075
HP:0012103HP:0003234Decreased plasma carnitine2TWNK CL E G H56652254892ORPHA12701160606075
HP:0012103HP:0012087Abnormal mitochondrial shape2TWNK CL E G H56652254892ORPHA12701160606075
HP:0012103HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect2TWNK CL E G H56652254892ORPHA12701160606075
HP:0012103HP:0008306Abnormal iron deposition in mitochondria2TWNK CL E G H56652254892ORPHA12341160606075
HP:0012103HP:0008265Mitochondrial lysine transport defect2TWNK CL E G H56652254892ORPHA12341160606075
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2TWNK CL E G H56652254892ORPHA12341160606075
HP:0012103HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level2TWNK CL E G H56652254892ORPHA12341160606075
HP:0012103HP:0003288Mitochondrial propionyl-CoA carboxylase defect2TWNK CL E G H56652254892ORPHA12341160606075
HP:0012103HP:0003234Decreased plasma carnitine2TWNK CL E G H56652254892ORPHA12341160606075
HP:0012103HP:0012087Abnormal mitochondrial shape2TWNK CL E G H56652254892ORPHA12341160606075
HP:0012103HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect2TWNK CL E G H56652254892ORPHA12341160606075
HP:0012103HP:0030059Mitochondrial depletion2TWNK CL E G H56652254892ORPHA12701160606075
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2TWNK CL E G H56652254892ORPHA12701160606075
HP:0012103HP:0003232Mitochondrial malic enzyme reduced2TWNK CL E G H56652254892ORPHA12701160606075
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2TWNK CL E G H56652254892ORPHA12701160606075
HP:0012103HP:0012102Abnormal mitochondrial number2TWNK CL E G H56652254892ORPHA12701160606075
HP:0012103HP:0200125Mitochondrial respiratory chain defects2TWNK CL E G H56652254892ORPHA12701160606075
HP:0012103HP:0003514Deficiency or absence of cytochrome b(-245)2TWNK CL E G H56652254892ORPHA12701160606075
HP:0012103HP:0012087Abnormal mitochondrial shape2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA16653148131222
HP:0012103HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA16653148131222
HP:0012103HP:0008306Abnormal iron deposition in mitochondria2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA16653148131222
HP:0012103HP:0008265Mitochondrial lysine transport defect2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA16653148131222
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA16653148131222
HP:0012103HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA16653148131222
HP:0012103HP:0003288Mitochondrial propionyl-CoA carboxylase defect2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA16653148131222
HP:0012103HP:0003234Decreased plasma carnitine2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA16653148131222
HP:0012103HP:0012087Abnormal mitochondrial shape2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA15503148131222
HP:0012103HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA15503148131222
HP:0012103HP:0008306Abnormal iron deposition in mitochondria2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA15503148131222
HP:0012103HP:0008265Mitochondrial lysine transport defect2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA15503148131222
HP:0012103HP:0011922Abnormal activity of mitochondrial respiratory chain2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA15503148131222
HP:0012103HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA15503148131222
HP:0012103HP:0003288Mitochondrial propionyl-CoA carboxylase defect2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA15503148131222
HP:0012103HP:0003234Decreased plasma carnitine2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA15503148131222
HP:0012103HP:0003514Deficiency or absence of cytochrome b(-245)2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA16653148131222
HP:0012103HP:0030059Mitochondrial depletion2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA16653148131222
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA16653148131222
HP:0012103HP:0003232Mitochondrial malic enzyme reduced2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA16653148131222
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA16653148131222
HP:0012103HP:0012102Abnormal mitochondrial number2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA16653148131222
HP:0012103HP:0200125Mitochondrial respiratory chain defects2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA16653148131222
HP:0012103HP:0003514Deficiency or absence of cytochrome b(-245)2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA15503148131222
HP:0012103HP:0030059Mitochondrial depletion2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA15503148131222
HP:0012103HP:0008316Abnormal mitochondria in muscle tissue2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA15503148131222
HP:0012103HP:0003232Mitochondrial malic enzyme reduced2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA15503148131222
HP:0012103HP:0002928Decreased activity of the pyruvate dehydrogenase complex2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA15503148131222
HP:0012103HP:0012102Abnormal mitochondrial number2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA15503148131222
HP:0012103HP:0200125Mitochondrial respiratory chain defects2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA15503148131222
HP:0012103HP:0008315Decreased plasma free carnitine3GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA168223657603824
HP:0012103HP:0040014Increased mitochondrial number3GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA168223657603824
HP:0012103HP:0033686Mitochondrial hypertrophy3GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA168223657603824
HP:0012103HP:0040015Increased activity of mitochondrial respiratory chain3GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA168223657603824
HP:0012103HP:0008972Decreased activity of mitochondrial respiratory chain3GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA168223657603824
HP:0012103HP:0008315Decreased plasma free carnitine3GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA160423657603824
HP:0012103HP:0040014Increased mitochondrial number3GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA160423657603824
HP:0012103HP:0033686Mitochondrial hypertrophy3GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA160423657603824
HP:0012103HP:0040015Increased activity of mitochondrial respiratory chain3GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA160423657603824
HP:0012103HP:0008972Decreased activity of mitochondrial respiratory chain3GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA160423657603824
HP:0012103HP:0040013Decreased mitochondrial number3GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA168223657603824
HP:0012103HP:0011936Decreased plasma total carnitine3GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA168223657603824
HP:0012103HP:0030774Mitochondrial swelling3GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA168223657603824
HP:0012103HP:0040013Decreased mitochondrial number3GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA160423657603824
HP:0012103HP:0011936Decreased plasma total carnitine3GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA160423657603824
HP:0012103HP:0030774Mitochondrial swelling3GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA160423657603824
HP:0012103HP:0040014Increased mitochondrial number3KCNJ10 CL E G H3766199343ORPHA13196256602208
HP:0012103HP:0033686Mitochondrial hypertrophy3KCNJ10 CL E G H3766199343ORPHA13196256602208
HP:0012103HP:0040015Increased activity of mitochondrial respiratory chain3KCNJ10 CL E G H3766199343ORPHA13196256602208
HP:0012103HP:0008972Decreased activity of mitochondrial respiratory chain3KCNJ10 CL E G H3766199343ORPHA13196256602208
HP:0012103HP:0008315Decreased plasma free carnitine3KCNJ10 CL E G H3766199343ORPHA13196256602208
HP:0012103HP:0033686Mitochondrial hypertrophy3KCNJ10 CL E G H3766199343ORPHA12896256602208
HP:0012103HP:0040015Increased activity of mitochondrial respiratory chain3KCNJ10 CL E G H3766199343ORPHA12896256602208
HP:0012103HP:0008972Decreased activity of mitochondrial respiratory chain3KCNJ10 CL E G H3766199343ORPHA12896256602208
HP:0012103HP:0008315Decreased plasma free carnitine3KCNJ10 CL E G H3766199343ORPHA12896256602208
HP:0012103HP:0040014Increased mitochondrial number3KCNJ10 CL E G H3766199343ORPHA12896256602208
HP:0012103HP:0011936Decreased plasma total carnitine3KCNJ10 CL E G H3766199343ORPHA13196256602208
HP:0012103HP:0030774Mitochondrial swelling3KCNJ10 CL E G H3766199343ORPHA13196256602208
HP:0012103HP:0040013Decreased mitochondrial number3KCNJ10 CL E G H3766199343ORPHA13196256602208
HP:0012103HP:0030774Mitochondrial swelling3KCNJ10 CL E G H3766199343ORPHA12896256602208
HP:0012103HP:0040013Decreased mitochondrial number3KCNJ10 CL E G H3766199343ORPHA12896256602208
HP:0012103HP:0011936Decreased plasma total carnitine3KCNJ10 CL E G H3766199343ORPHA12896256602208
HP:0012103HP:0040014Increased mitochondrial number3PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM15639719600414
HP:0012103HP:0033686Mitochondrial hypertrophy3PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM15639719600414
HP:0012103HP:0040015Increased activity of mitochondrial respiratory chain3PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM15639719600414
HP:0012103HP:0008972Decreased activity of mitochondrial respiratory chain3PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM15639719600414
HP:0012103HP:0008315Decreased plasma free carnitine3PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM15639719600414
HP:0012103HP:0033686Mitochondrial hypertrophy3PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM14069719600414
HP:0012103HP:0040015Increased activity of mitochondrial respiratory chain3PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM14069719600414
HP:0012103HP:0008972Decreased activity of mitochondrial respiratory chain3PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM14069719600414
HP:0012103HP:0008315Decreased plasma free carnitine3PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM14069719600414
HP:0012103HP:0040014Increased mitochondrial number3PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM14069719600414
HP:0012103HP:0011936Decreased plasma total carnitine3PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM15639719600414
HP:0012103HP:0030774Mitochondrial swelling3PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM15639719600414
HP:0012103HP:0040013Decreased mitochondrial number3PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM15639719600414
HP:0012103HP:0011936Decreased plasma total carnitine3PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM14069719600414
HP:0012103HP:0030774Mitochondrial swelling3PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM14069719600414
HP:0012103HP:0040013Decreased mitochondrial number3PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM14069719600414
HP:0012103HP:0008315Decreased plasma free carnitine3POLG CL E G H5428254892ORPHA114709179174763
HP:0012103HP:0040013Decreased mitochondrial number3POLG CL E G H5428254892ORPHA117129179174763
HP:0012103HP:0030774Mitochondrial swelling3POLG CL E G H5428254892ORPHA117129179174763
HP:0012103HP:0011936Decreased plasma total carnitine3POLG CL E G H5428254892ORPHA117129179174763
HP:0012103HP:0040013Decreased mitochondrial number3POLG CL E G H5428254892ORPHA114709179174763
HP:0012103HP:0030774Mitochondrial swelling3POLG CL E G H5428254892ORPHA114709179174763
HP:0012103HP:0011936Decreased plasma total carnitine3POLG CL E G H5428254892ORPHA114709179174763
HP:0012103HP:0040014Increased mitochondrial number3POLG CL E G H5428254892ORPHA117129179174763
HP:0012103HP:0033686Mitochondrial hypertrophy3POLG CL E G H5428254892ORPHA117129179174763
HP:0012103HP:0040015Increased activity of mitochondrial respiratory chain3POLG CL E G H5428254892ORPHA117129179174763
HP:0012103HP:0008972Decreased activity of mitochondrial respiratory chain3POLG CL E G H5428254892ORPHA117129179174763
HP:0012103HP:0008315Decreased plasma free carnitine3POLG CL E G H5428254892ORPHA117129179174763
HP:0012103HP:0040014Increased mitochondrial number3POLG CL E G H5428254892ORPHA114709179174763
HP:0012103HP:0033686Mitochondrial hypertrophy3POLG CL E G H5428254892ORPHA114709179174763
HP:0012103HP:0040015Increased activity of mitochondrial respiratory chain3POLG CL E G H5428254892ORPHA114709179174763
HP:0012103HP:0008972Decreased activity of mitochondrial respiratory chain3POLG CL E G H5428254892ORPHA114709179174763
HP:0012103HP:0040013Decreased mitochondrial number3POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA117129179174763
HP:0012103HP:0011936Decreased plasma total carnitine3POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA117129179174763
HP:0012103HP:0030774Mitochondrial swelling3POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA117129179174763
HP:0012103HP:0040013Decreased mitochondrial number3POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA114709179174763
HP:0012103HP:0011936Decreased plasma total carnitine3POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA114709179174763
HP:0012103HP:0030774Mitochondrial swelling3POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA114709179174763
HP:0012103HP:0008315Decreased plasma free carnitine3POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA117129179174763
HP:0012103HP:0040014Increased mitochondrial number3POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA117129179174763
HP:0012103HP:0033686Mitochondrial hypertrophy3POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA117129179174763
HP:0012103HP:0040015Increased activity of mitochondrial respiratory chain3POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA117129179174763
HP:0012103HP:0008972Decreased activity of mitochondrial respiratory chain3POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA117129179174763
HP:0012103HP:0008315Decreased plasma free carnitine3POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA114709179174763
HP:0012103HP:0040014Increased mitochondrial number3POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA114709179174763
HP:0012103HP:0033686Mitochondrial hypertrophy3POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA114709179174763
HP:0012103HP:0040015Increased activity of mitochondrial respiratory chain3POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA114709179174763
HP:0012103HP:0008972Decreased activity of mitochondrial respiratory chain3POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA114709179174763
HP:0012103HP:0040013Decreased mitochondrial number3POLG2 CL E G H11232254892ORPHA11339180604983
HP:0012103HP:0011936Decreased plasma total carnitine3POLG2 CL E G H11232254892ORPHA11339180604983
HP:0012103HP:0030774Mitochondrial swelling3POLG2 CL E G H11232254892ORPHA11339180604983
HP:0012103HP:0008972Decreased activity of mitochondrial respiratory chain3POLG2 CL E G H11232254892ORPHA12049180604983
HP:0012103HP:0008315Decreased plasma free carnitine3POLG2 CL E G H11232254892ORPHA12049180604983
HP:0012103HP:0040014Increased mitochondrial number3POLG2 CL E G H11232254892ORPHA12049180604983
HP:0012103HP:0033686Mitochondrial hypertrophy3POLG2 CL E G H11232254892ORPHA12049180604983
HP:0012103HP:0040015Increased activity of mitochondrial respiratory chain3POLG2 CL E G H11232254892ORPHA12049180604983
HP:0012103HP:0008972Decreased activity of mitochondrial respiratory chain3POLG2 CL E G H11232254892ORPHA11339180604983
HP:0012103HP:0008315Decreased plasma free carnitine3POLG2 CL E G H11232254892ORPHA11339180604983
HP:0012103HP:0040014Increased mitochondrial number3POLG2 CL E G H11232254892ORPHA11339180604983
HP:0012103HP:0033686Mitochondrial hypertrophy3POLG2 CL E G H11232254892ORPHA11339180604983
HP:0012103HP:0040015Increased activity of mitochondrial respiratory chain3POLG2 CL E G H11232254892ORPHA11339180604983
HP:0012103HP:0040013Decreased mitochondrial number3POLG2 CL E G H11232254892ORPHA12049180604983
HP:0012103HP:0011936Decreased plasma total carnitine3POLG2 CL E G H11232254892ORPHA12049180604983
HP:0012103HP:0030774Mitochondrial swelling3POLG2 CL E G H11232254892ORPHA12049180604983
HP:0012103HP:0033686Mitochondrial hypertrophy3RRM2B CL E G H50484254892ORPHA126117296604712
HP:0012103HP:0040015Increased activity of mitochondrial respiratory chain3RRM2B CL E G H50484254892ORPHA126117296604712
HP:0012103HP:0008972Decreased activity of mitochondrial respiratory chain3RRM2B CL E G H50484254892ORPHA126117296604712
HP:0012103HP:0008315Decreased plasma free carnitine3RRM2B CL E G H50484254892ORPHA126117296604712
HP:0012103HP:0040014Increased mitochondrial number3RRM2B CL E G H50484254892ORPHA126117296604712
HP:0012103HP:0011936Decreased plasma total carnitine3RRM2B CL E G H50484254892ORPHA127217296604712
HP:0012103HP:0030774Mitochondrial swelling3RRM2B CL E G H50484254892ORPHA127217296604712
HP:0012103HP:0040013Decreased mitochondrial number3RRM2B CL E G H50484254892ORPHA127217296604712
HP:0012103HP:0030774Mitochondrial swelling3RRM2B CL E G H50484254892ORPHA126117296604712
HP:0012103HP:0040013Decreased mitochondrial number3RRM2B CL E G H50484254892ORPHA126117296604712
HP:0012103HP:0011936Decreased plasma total carnitine3RRM2B CL E G H50484254892ORPHA126117296604712
HP:0012103HP:0040014Increased mitochondrial number3RRM2B CL E G H50484254892ORPHA127217296604712
HP:0012103HP:0033686Mitochondrial hypertrophy3RRM2B CL E G H50484254892ORPHA127217296604712
HP:0012103HP:0040015Increased activity of mitochondrial respiratory chain3RRM2B CL E G H50484254892ORPHA127217296604712
HP:0012103HP:0008972Decreased activity of mitochondrial respiratory chain3RRM2B CL E G H50484254892ORPHA127217296604712
HP:0012103HP:0008315Decreased plasma free carnitine3RRM2B CL E G H50484254892ORPHA127217296604712
HP:0012103HP:0008972Decreased activity of mitochondrial respiratory chain3RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA127217296604712
HP:0012103HP:0008315Decreased plasma free carnitine3RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA127217296604712
HP:0012103HP:0040014Increased mitochondrial number3RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA127217296604712
HP:0012103HP:0033686Mitochondrial hypertrophy3RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA127217296604712
HP:0012103HP:0040015Increased activity of mitochondrial respiratory chain3RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA127217296604712
HP:0012103HP:0008972Decreased activity of mitochondrial respiratory chain3RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA126117296604712
HP:0012103HP:0008315Decreased plasma free carnitine3RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA126117296604712
HP:0012103HP:0040014Increased mitochondrial number3RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA126117296604712
HP:0012103HP:0033686Mitochondrial hypertrophy3RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA126117296604712
HP:0012103HP:0040015Increased activity of mitochondrial respiratory chain3RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA126117296604712
HP:0012103HP:0030774Mitochondrial swelling3RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA127217296604712
HP:0012103HP:0040013Decreased mitochondrial number3RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA127217296604712
HP:0012103HP:0011936Decreased plasma total carnitine3RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA127217296604712
HP:0012103HP:0040013Decreased mitochondrial number3RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA126117296604712
HP:0012103HP:0011936Decreased plasma total carnitine3RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA126117296604712
HP:0012103HP:0030774Mitochondrial swelling3RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA126117296604712
HP:0012103HP:0040013Decreased mitochondrial number3SLC25A3 CL E G H525091130ORPHA110910989600370
HP:0012103HP:0011936Decreased plasma total carnitine3SLC25A3 CL E G H525091130ORPHA110910989600370
HP:0012103HP:0030774Mitochondrial swelling3SLC25A3 CL E G H525091130ORPHA110910989600370
HP:0012103HP:0040013Decreased mitochondrial number3SLC25A3 CL E G H525091130ORPHA110410989600370
HP:0012103HP:0011936Decreased plasma total carnitine3SLC25A3 CL E G H525091130ORPHA110410989600370
HP:0012103HP:0030774Mitochondrial swelling3SLC25A3 CL E G H525091130ORPHA110410989600370
HP:0012103HP:0008972Decreased activity of mitochondrial respiratory chain3SLC25A3 CL E G H525091130ORPHA110910989600370
HP:0012103HP:0008315Decreased plasma free carnitine3SLC25A3 CL E G H525091130ORPHA110910989600370
HP:0012103HP:0040014Increased mitochondrial number3SLC25A3 CL E G H525091130ORPHA110910989600370
HP:0012103HP:0033686Mitochondrial hypertrophy3SLC25A3 CL E G H525091130ORPHA110910989600370
HP:0012103HP:0040015Increased activity of mitochondrial respiratory chain3SLC25A3 CL E G H525091130ORPHA110910989600370
HP:0012103HP:0008972Decreased activity of mitochondrial respiratory chain3SLC25A3 CL E G H525091130ORPHA110410989600370
HP:0012103HP:0008315Decreased plasma free carnitine3SLC25A3 CL E G H525091130ORPHA110410989600370
HP:0012103HP:0040014Increased mitochondrial number3SLC25A3 CL E G H525091130ORPHA110410989600370
HP:0012103HP:0033686Mitochondrial hypertrophy3SLC25A3 CL E G H525091130ORPHA110410989600370
HP:0012103HP:0040015Increased activity of mitochondrial respiratory chain3SLC25A3 CL E G H525091130ORPHA110410989600370
HP:0012103HP:0040013Decreased mitochondrial number3SLC25A4 CL E G H291254892ORPHA125410990103220
HP:0012103HP:0011936Decreased plasma total carnitine3SLC25A4 CL E G H291254892ORPHA125410990103220
HP:0012103HP:0030774Mitochondrial swelling3SLC25A4 CL E G H291254892ORPHA125410990103220
HP:0012103HP:0008315Decreased plasma free carnitine3SLC25A4 CL E G H291254892ORPHA126110990103220
HP:0012103HP:0040014Increased mitochondrial number3SLC25A4 CL E G H291254892ORPHA126110990103220
HP:0012103HP:0033686Mitochondrial hypertrophy3SLC25A4 CL E G H291254892ORPHA126110990103220
HP:0012103HP:0040015Increased activity of mitochondrial respiratory chain3SLC25A4 CL E G H291254892ORPHA126110990103220
HP:0012103HP:0008972Decreased activity of mitochondrial respiratory chain3SLC25A4 CL E G H291254892ORPHA126110990103220
HP:0012103HP:0008315Decreased plasma free carnitine3SLC25A4 CL E G H291254892ORPHA125410990103220
HP:0012103HP:0040014Increased mitochondrial number3SLC25A4 CL E G H291254892ORPHA125410990103220
HP:0012103HP:0033686Mitochondrial hypertrophy3SLC25A4 CL E G H291254892ORPHA125410990103220
HP:0012103HP:0040015Increased activity of mitochondrial respiratory chain3SLC25A4 CL E G H291254892ORPHA125410990103220
HP:0012103HP:0008972Decreased activity of mitochondrial respiratory chain3SLC25A4 CL E G H291254892ORPHA125410990103220
HP:0012103HP:0040013Decreased mitochondrial number3SLC25A4 CL E G H291254892ORPHA126110990103220
HP:0012103HP:0011936Decreased plasma total carnitine3SLC25A4 CL E G H291254892ORPHA126110990103220
HP:0012103HP:0030774Mitochondrial swelling3SLC25A4 CL E G H291254892ORPHA126110990103220
HP:0012103HP:0008972Decreased activity of mitochondrial respiratory chain3TWNK CL E G H56652254892ORPHA12341160606075
HP:0012103HP:0008315Decreased plasma free carnitine3TWNK CL E G H56652254892ORPHA12341160606075
HP:0012103HP:0040014Increased mitochondrial number3TWNK CL E G H56652254892ORPHA12341160606075
HP:0012103HP:0033686Mitochondrial hypertrophy3TWNK CL E G H56652254892ORPHA12341160606075
HP:0012103HP:0040015Increased activity of mitochondrial respiratory chain3TWNK CL E G H56652254892ORPHA12341160606075
HP:0012103HP:0040013Decreased mitochondrial number3TWNK CL E G H56652254892ORPHA12701160606075
HP:0012103HP:0011936Decreased plasma total carnitine3TWNK CL E G H56652254892ORPHA12701160606075
HP:0012103HP:0030774Mitochondrial swelling3TWNK CL E G H56652254892ORPHA12701160606075
HP:0012103HP:0040013Decreased mitochondrial number3TWNK CL E G H56652254892ORPHA12341160606075
HP:0012103HP:0011936Decreased plasma total carnitine3TWNK CL E G H56652254892ORPHA12341160606075
HP:0012103HP:0030774Mitochondrial swelling3TWNK CL E G H56652254892ORPHA12341160606075
HP:0012103HP:0008972Decreased activity of mitochondrial respiratory chain3TWNK CL E G H56652254892ORPHA12701160606075
HP:0012103HP:0008315Decreased plasma free carnitine3TWNK CL E G H56652254892ORPHA12701160606075
HP:0012103HP:0040014Increased mitochondrial number3TWNK CL E G H56652254892ORPHA12701160606075
HP:0012103HP:0033686Mitochondrial hypertrophy3TWNK CL E G H56652254892ORPHA12701160606075
HP:0012103HP:0040015Increased activity of mitochondrial respiratory chain3TWNK CL E G H56652254892ORPHA12701160606075
HP:0012103HP:0011936Decreased plasma total carnitine3TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA16653148131222
HP:0012103HP:0030774Mitochondrial swelling3TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA16653148131222
HP:0012103HP:0040013Decreased mitochondrial number3TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA16653148131222
HP:0012103HP:0030774Mitochondrial swelling3TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA15503148131222
HP:0012103HP:0040013Decreased mitochondrial number3TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA15503148131222
HP:0012103HP:0011936Decreased plasma total carnitine3TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA15503148131222
HP:0012103HP:0040014Increased mitochondrial number3TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA16653148131222
HP:0012103HP:0033686Mitochondrial hypertrophy3TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA16653148131222
HP:0012103HP:0040015Increased activity of mitochondrial respiratory chain3TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA16653148131222
HP:0012103HP:0008972Decreased activity of mitochondrial respiratory chain3TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA16653148131222
HP:0012103HP:0008315Decreased plasma free carnitine3TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA16653148131222
HP:0012103HP:0033686Mitochondrial hypertrophy3TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA15503148131222
HP:0012103HP:0040015Increased activity of mitochondrial respiratory chain3TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA15503148131222
HP:0012103HP:0008972Decreased activity of mitochondrial respiratory chain3TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA15503148131222
HP:0012103HP:0008315Decreased plasma free carnitine3TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA15503148131222
HP:0012103HP:0040014Increased mitochondrial number3TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA15503148131222
HP:0012103HP:0011923Decreased activity of mitochondrial complex I4GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA168223657603824
HP:0012103HP:0011924Decreased activity of mitochondrial complex III4GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA168223657603824
HP:0012103HP:0011923Decreased activity of mitochondrial complex I4GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA160423657603824
HP:0012103HP:0011924Decreased activity of mitochondrial complex III4GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA160423657603824
HP:0012103HP:0011925Decreased activity of mitochondrial ATP synthase complex4GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA168223657603824
HP:0012103HP:0008314Decreased activity of mitochondrial complex II4GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA168223657603824
HP:0012103HP:0008347Decreased activity of mitochondrial complex IV4GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA168223657603824
HP:0012103HP:0011925Decreased activity of mitochondrial ATP synthase complex4GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA160423657603824
HP:0012103HP:0008314Decreased activity of mitochondrial complex II4GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA160423657603824
HP:0012103HP:0008347Decreased activity of mitochondrial complex IV4GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA160423657603824
HP:0012103HP:0011924Decreased activity of mitochondrial complex III4KCNJ10 CL E G H3766199343ORPHA13196256602208
HP:0012103HP:0011923Decreased activity of mitochondrial complex I4KCNJ10 CL E G H3766199343ORPHA13196256602208
HP:0012103HP:0011924Decreased activity of mitochondrial complex III4KCNJ10 CL E G H3766199343ORPHA12896256602208
HP:0012103HP:0011923Decreased activity of mitochondrial complex I4KCNJ10 CL E G H3766199343ORPHA12896256602208
HP:0012103HP:0008347Decreased activity of mitochondrial complex IV4KCNJ10 CL E G H3766199343ORPHA13196256602208
HP:0012103HP:0011925Decreased activity of mitochondrial ATP synthase complex4KCNJ10 CL E G H3766199343ORPHA13196256602208
HP:0012103HP:0008314Decreased activity of mitochondrial complex II4KCNJ10 CL E G H3766199343ORPHA13196256602208
HP:0012103HP:0008347Decreased activity of mitochondrial complex IV4KCNJ10 CL E G H3766199343ORPHA12896256602208
HP:0012103HP:0011925Decreased activity of mitochondrial ATP synthase complex4KCNJ10 CL E G H3766199343ORPHA12896256602208
HP:0012103HP:0008314Decreased activity of mitochondrial complex II4KCNJ10 CL E G H3766199343ORPHA12896256602208
HP:0012103HP:0011924Decreased activity of mitochondrial complex III4PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM15639719600414
HP:0012103HP:0011923Decreased activity of mitochondrial complex I4PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM15639719600414
HP:0012103HP:0011924Decreased activity of mitochondrial complex III4PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM14069719600414
HP:0012103HP:0011923Decreased activity of mitochondrial complex I4PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM14069719600414
HP:0012103HP:0008347Decreased activity of mitochondrial complex IV4PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM15639719600414
HP:0012103HP:0011925Decreased activity of mitochondrial ATP synthase complex4PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM15639719600414
HP:0012103HP:0008314Decreased activity of mitochondrial complex II4PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM15639719600414
HP:0012103HP:0008347Decreased activity of mitochondrial complex IV4PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM14069719600414
HP:0012103HP:0011925Decreased activity of mitochondrial ATP synthase complex4PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM14069719600414
HP:0012103HP:0008314Decreased activity of mitochondrial complex II4PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM14069719600414
HP:0012103HP:0011925Decreased activity of mitochondrial ATP synthase complex4POLG CL E G H5428254892ORPHA117129179174763
HP:0012103HP:0008314Decreased activity of mitochondrial complex II4POLG CL E G H5428254892ORPHA117129179174763
HP:0012103HP:0008347Decreased activity of mitochondrial complex IV4POLG CL E G H5428254892ORPHA117129179174763
HP:0012103HP:0011925Decreased activity of mitochondrial ATP synthase complex4POLG CL E G H5428254892ORPHA114709179174763
HP:0012103HP:0008314Decreased activity of mitochondrial complex II4POLG CL E G H5428254892ORPHA114709179174763
HP:0012103HP:0008347Decreased activity of mitochondrial complex IV4POLG CL E G H5428254892ORPHA114709179174763
HP:0012103HP:0011923Decreased activity of mitochondrial complex I4POLG CL E G H5428254892ORPHA117129179174763
HP:0012103HP:0011924Decreased activity of mitochondrial complex III4POLG CL E G H5428254892ORPHA117129179174763
HP:0012103HP:0011923Decreased activity of mitochondrial complex I4POLG CL E G H5428254892ORPHA114709179174763
HP:0012103HP:0011924Decreased activity of mitochondrial complex III4POLG CL E G H5428254892ORPHA114709179174763
HP:0012103HP:0011925Decreased activity of mitochondrial ATP synthase complex4POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA117129179174763
HP:0012103HP:0008314Decreased activity of mitochondrial complex II4POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA117129179174763
HP:0012103HP:0008347Decreased activity of mitochondrial complex IV4POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA117129179174763
HP:0012103HP:0011925Decreased activity of mitochondrial ATP synthase complex4POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA114709179174763
HP:0012103HP:0008314Decreased activity of mitochondrial complex II4POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA114709179174763
HP:0012103HP:0008347Decreased activity of mitochondrial complex IV4POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA114709179174763
HP:0012103HP:0011923Decreased activity of mitochondrial complex I4POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA117129179174763
HP:0012103HP:0011924Decreased activity of mitochondrial complex III4POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA117129179174763
HP:0012103HP:0011923Decreased activity of mitochondrial complex I4POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA114709179174763
HP:0012103HP:0011924Decreased activity of mitochondrial complex III4POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA114709179174763
HP:0012103HP:0011925Decreased activity of mitochondrial ATP synthase complex4POLG2 CL E G H11232254892ORPHA11339180604983
HP:0012103HP:0008314Decreased activity of mitochondrial complex II4POLG2 CL E G H11232254892ORPHA11339180604983
HP:0012103HP:0008347Decreased activity of mitochondrial complex IV4POLG2 CL E G H11232254892ORPHA11339180604983
HP:0012103HP:0011923Decreased activity of mitochondrial complex I4POLG2 CL E G H11232254892ORPHA12049180604983
HP:0012103HP:0011924Decreased activity of mitochondrial complex III4POLG2 CL E G H11232254892ORPHA12049180604983
HP:0012103HP:0011923Decreased activity of mitochondrial complex I4POLG2 CL E G H11232254892ORPHA11339180604983
HP:0012103HP:0011924Decreased activity of mitochondrial complex III4POLG2 CL E G H11232254892ORPHA11339180604983
HP:0012103HP:0011925Decreased activity of mitochondrial ATP synthase complex4POLG2 CL E G H11232254892ORPHA12049180604983
HP:0012103HP:0008314Decreased activity of mitochondrial complex II4POLG2 CL E G H11232254892ORPHA12049180604983
HP:0012103HP:0008347Decreased activity of mitochondrial complex IV4POLG2 CL E G H11232254892ORPHA12049180604983
HP:0012103HP:0011924Decreased activity of mitochondrial complex III4RRM2B CL E G H50484254892ORPHA126117296604712
HP:0012103HP:0011923Decreased activity of mitochondrial complex I4RRM2B CL E G H50484254892ORPHA126117296604712
HP:0012103HP:0008347Decreased activity of mitochondrial complex IV4RRM2B CL E G H50484254892ORPHA127217296604712
HP:0012103HP:0011925Decreased activity of mitochondrial ATP synthase complex4RRM2B CL E G H50484254892ORPHA127217296604712
HP:0012103HP:0008314Decreased activity of mitochondrial complex II4RRM2B CL E G H50484254892ORPHA127217296604712
HP:0012103HP:0008347Decreased activity of mitochondrial complex IV4RRM2B CL E G H50484254892ORPHA126117296604712
HP:0012103HP:0011925Decreased activity of mitochondrial ATP synthase complex4RRM2B CL E G H50484254892ORPHA126117296604712
HP:0012103HP:0008314Decreased activity of mitochondrial complex II4RRM2B CL E G H50484254892ORPHA126117296604712
HP:0012103HP:0011924Decreased activity of mitochondrial complex III4RRM2B CL E G H50484254892ORPHA127217296604712
HP:0012103HP:0011923Decreased activity of mitochondrial complex I4RRM2B CL E G H50484254892ORPHA127217296604712
HP:0012103HP:0011923Decreased activity of mitochondrial complex I4RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA127217296604712
HP:0012103HP:0011924Decreased activity of mitochondrial complex III4RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA127217296