Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
---|
HPO disease - gene - phenotype typical associations: |
HP:0012103 | HP:0012103 | Abnormality of the mitochondrion | 0 | GNE CL E G H | 10020 | 3166 | Ladda Zonana Ramer syndrome | | | ORPHA | 1 | | 783 | 23657 | 603824 |
HP:0012103 | HP:0012103 | Abnormality of the mitochondrion | 0 | KCNJ10 CL E G H | 3766 | 199343 | | | | ORPHA | 1 | | 335 | 6256 | 602208 |
HP:0012103 | HP:0012103 | Abnormality of the mitochondrion | 0 | PEX5 CL E G H | 5830 | 214110 | Peroxisome biogenesis disorder 2a (zellweger) | 214110 | C1859228 | OMIM | 1 | | 689 | 9719 | 600414 |
HP:0012103 | HP:0012103 | Abnormality of the mitochondrion | 0 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0012103 | Abnormality of the mitochondrion | 0 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0012103 | Abnormality of the mitochondrion | 0 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 1 | | 240 | 9180 | 604983 |
HP:0012103 | HP:0012103 | Abnormality of the mitochondrion | 0 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0012103 | Abnormality of the mitochondrion | 0 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0012103 | Abnormality of the mitochondrion | 0 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 114 | 10989 | 600370 |
HP:0012103 | HP:0012103 | Abnormality of the mitochondrion | 0 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 1 | | 278 | 10990 | 103220 |
HP:0012103 | HP:0012103 | Abnormality of the mitochondrion | 0 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 1 | | 308 | 1160 | 606075 |
HP:0012103 | HP:0012103 | Abnormality of the mitochondrion | 0 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 803 | 3148 | 131222 |
HP:0012103 | HP:0003287 | Abnormality of mitochondrial metabolism | 1 | GNE CL E G H | 10020 | 3166 | Ladda Zonana Ramer syndrome | | | ORPHA | 1 | | 783 | 23657 | 603824 |
HP:0012103 | HP:0008322 | Abnormal mitochondrial morphology | 1 | GNE CL E G H | 10020 | 3166 | Ladda Zonana Ramer syndrome | | | ORPHA | 1 | | 783 | 23657 | 603824 |
HP:0012103 | HP:0008322 | Abnormal mitochondrial morphology | 1 | KCNJ10 CL E G H | 3766 | 199343 | | | | ORPHA | 1 | | 335 | 6256 | 602208 |
HP:0012103 | HP:0003287 | Abnormality of mitochondrial metabolism | 1 | KCNJ10 CL E G H | 3766 | 199343 | | | | ORPHA | 1 | | 335 | 6256 | 602208 |
HP:0012103 | HP:0003287 | Abnormality of mitochondrial metabolism | 1 | PEX5 CL E G H | 5830 | 214110 | Peroxisome biogenesis disorder 2a (zellweger) | 214110 | C1859228 | OMIM | 1 | | 689 | 9719 | 600414 |
HP:0012103 | HP:0008322 | Abnormal mitochondrial morphology | 1 | PEX5 CL E G H | 5830 | 214110 | Peroxisome biogenesis disorder 2a (zellweger) | 214110 | C1859228 | OMIM | 1 | | 689 | 9719 | 600414 |
HP:0012103 | HP:0008322 | Abnormal mitochondrial morphology | 1 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0003287 | Abnormality of mitochondrial metabolism | 1 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0008322 | Abnormal mitochondrial morphology | 1 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0003287 | Abnormality of mitochondrial metabolism | 1 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0003287 | Abnormality of mitochondrial metabolism | 1 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 1 | | 240 | 9180 | 604983 |
HP:0012103 | HP:0008322 | Abnormal mitochondrial morphology | 1 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 1 | | 240 | 9180 | 604983 |
HP:0012103 | HP:0008322 | Abnormal mitochondrial morphology | 1 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0003287 | Abnormality of mitochondrial metabolism | 1 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0008322 | Abnormal mitochondrial morphology | 1 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0003287 | Abnormality of mitochondrial metabolism | 1 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0008322 | Abnormal mitochondrial morphology | 1 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 114 | 10989 | 600370 |
HP:0012103 | HP:0003287 | Abnormality of mitochondrial metabolism | 1 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 114 | 10989 | 600370 |
HP:0012103 | HP:0008322 | Abnormal mitochondrial morphology | 1 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 1 | | 278 | 10990 | 103220 |
HP:0012103 | HP:0003287 | Abnormality of mitochondrial metabolism | 1 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 1 | | 278 | 10990 | 103220 |
HP:0012103 | HP:0008322 | Abnormal mitochondrial morphology | 1 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 1 | | 308 | 1160 | 606075 |
HP:0012103 | HP:0003287 | Abnormality of mitochondrial metabolism | 1 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 1 | | 308 | 1160 | 606075 |
HP:0012103 | HP:0008322 | Abnormal mitochondrial morphology | 1 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 803 | 3148 | 131222 |
HP:0012103 | HP:0003287 | Abnormality of mitochondrial metabolism | 1 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 803 | 3148 | 131222 |
HP:0012103 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 2 | GNE CL E G H | 10020 | 3166 | Ladda Zonana Ramer syndrome | | | ORPHA | 1 | | 783 | 23657 | 603824 |
HP:0012103 | HP:0003514 | Deficiency or absence of cytochrome b(-245) | 2 | GNE CL E G H | 10020 | 3166 | Ladda Zonana Ramer syndrome | | | ORPHA | 1 | | 783 | 23657 | 603824 |
HP:0012103 | HP:0003232 | Mitochondrial malic enzyme reduced | 2 | GNE CL E G H | 10020 | 3166 | Ladda Zonana Ramer syndrome | | | ORPHA | 1 | | 783 | 23657 | 603824 |
HP:0012103 | HP:0100950 | Decreased 3-hydroxyacyl-CoA dehydrogenase level | 2 | GNE CL E G H | 10020 | 3166 | Ladda Zonana Ramer syndrome | | | ORPHA | 1 | | 783 | 23657 | 603824 |
HP:0012103 | HP:0008265 | Mitochondrial lysine transport defect | 2 | GNE CL E G H | 10020 | 3166 | Ladda Zonana Ramer syndrome | | | ORPHA | 1 | | 783 | 23657 | 603824 |
HP:0012103 | HP:0008316 | Abnormal mitochondria in muscle tissue | 2 | GNE CL E G H | 10020 | 3166 | Ladda Zonana Ramer syndrome | | | ORPHA | 1 | | 783 | 23657 | 603824 |
HP:0012103 | HP:0012102 | Abnormal mitochondrial number | 2 | GNE CL E G H | 10020 | 3166 | Ladda Zonana Ramer syndrome | | | ORPHA | 1 | | 783 | 23657 | 603824 |
HP:0012103 | HP:0030059 | Mitochondrial depletion | 2 | GNE CL E G H | 10020 | 3166 | Ladda Zonana Ramer syndrome | | | ORPHA | 1 | | 783 | 23657 | 603824 |
HP:0012103 | HP:0200125 | Mitochondrial respiratory chain defects | 2 | GNE CL E G H | 10020 | 3166 | Ladda Zonana Ramer syndrome | | | ORPHA | 1 | | 783 | 23657 | 603824 |
HP:0012103 | HP:0008306 | Abnormal iron deposition in mitochondria | 2 | GNE CL E G H | 10020 | 3166 | Ladda Zonana Ramer syndrome | | | ORPHA | 1 | | 783 | 23657 | 603824 |
HP:0012103 | HP:0003234 | Decreased plasma carnitine | 2 | GNE CL E G H | 10020 | 3166 | Ladda Zonana Ramer syndrome | | | ORPHA | 1 | | 783 | 23657 | 603824 |
HP:0012103 | HP:0012087 | Abnormal mitochondrial shape | 2 | GNE CL E G H | 10020 | 3166 | Ladda Zonana Ramer syndrome | | | ORPHA | 1 | | 783 | 23657 | 603824 |
HP:0012103 | HP:0003647 | Electron transfer flavoprotein-ubiquinone oxidoreductase defect | 2 | GNE CL E G H | 10020 | 3166 | Ladda Zonana Ramer syndrome | | | ORPHA | 1 | | 783 | 23657 | 603824 |
HP:0012103 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 2 | GNE CL E G H | 10020 | 3166 | Ladda Zonana Ramer syndrome | | | ORPHA | 1 | | 783 | 23657 | 603824 |
HP:0012103 | HP:0003288 | Mitochondrial propionyl-CoA carboxylase defect | 2 | GNE CL E G H | 10020 | 3166 | Ladda Zonana Ramer syndrome | | | ORPHA | 1 | | 783 | 23657 | 603824 |
HP:0012103 | HP:0200125 | Mitochondrial respiratory chain defects | 2 | KCNJ10 CL E G H | 3766 | 199343 | | | | ORPHA | 1 | | 335 | 6256 | 602208 |
HP:0012103 | HP:0008316 | Abnormal mitochondria in muscle tissue | 2 | KCNJ10 CL E G H | 3766 | 199343 | | | | ORPHA | 1 | | 335 | 6256 | 602208 |
HP:0012103 | HP:0012102 | Abnormal mitochondrial number | 2 | KCNJ10 CL E G H | 3766 | 199343 | | | | ORPHA | 1 | | 335 | 6256 | 602208 |
HP:0012103 | HP:0030059 | Mitochondrial depletion | 2 | KCNJ10 CL E G H | 3766 | 199343 | | | | ORPHA | 1 | | 335 | 6256 | 602208 |
HP:0012103 | HP:0003288 | Mitochondrial propionyl-CoA carboxylase defect | 2 | KCNJ10 CL E G H | 3766 | 199343 | | | | ORPHA | 1 | | 335 | 6256 | 602208 |
HP:0012103 | HP:0008306 | Abnormal iron deposition in mitochondria | 2 | KCNJ10 CL E G H | 3766 | 199343 | | | | ORPHA | 1 | | 335 | 6256 | 602208 |
HP:0012103 | HP:0003234 | Decreased plasma carnitine | 2 | KCNJ10 CL E G H | 3766 | 199343 | | | | ORPHA | 1 | | 335 | 6256 | 602208 |
HP:0012103 | HP:0012087 | Abnormal mitochondrial shape | 2 | KCNJ10 CL E G H | 3766 | 199343 | | | | ORPHA | 1 | | 335 | 6256 | 602208 |
HP:0012103 | HP:0003647 | Electron transfer flavoprotein-ubiquinone oxidoreductase defect | 2 | KCNJ10 CL E G H | 3766 | 199343 | | | | ORPHA | 1 | | 335 | 6256 | 602208 |
HP:0012103 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 2 | KCNJ10 CL E G H | 3766 | 199343 | | | | ORPHA | 1 | | 335 | 6256 | 602208 |
HP:0012103 | HP:0003232 | Mitochondrial malic enzyme reduced | 2 | KCNJ10 CL E G H | 3766 | 199343 | | | | ORPHA | 1 | | 335 | 6256 | 602208 |
HP:0012103 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 2 | KCNJ10 CL E G H | 3766 | 199343 | | | | ORPHA | 1 | | 335 | 6256 | 602208 |
HP:0012103 | HP:0003514 | Deficiency or absence of cytochrome b(-245) | 2 | KCNJ10 CL E G H | 3766 | 199343 | | | | ORPHA | 1 | | 335 | 6256 | 602208 |
HP:0012103 | HP:0100950 | Decreased 3-hydroxyacyl-CoA dehydrogenase level | 2 | KCNJ10 CL E G H | 3766 | 199343 | | | | ORPHA | 1 | | 335 | 6256 | 602208 |
HP:0012103 | HP:0008265 | Mitochondrial lysine transport defect | 2 | KCNJ10 CL E G H | 3766 | 199343 | | | | ORPHA | 1 | | 335 | 6256 | 602208 |
HP:0012103 | HP:0003232 | Mitochondrial malic enzyme reduced | 2 | PEX5 CL E G H | 5830 | 214110 | Peroxisome biogenesis disorder 2a (zellweger) | 214110 | C1859228 | OMIM | 1 | | 689 | 9719 | 600414 |
HP:0012103 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 2 | PEX5 CL E G H | 5830 | 214110 | Peroxisome biogenesis disorder 2a (zellweger) | 214110 | C1859228 | OMIM | 1 | | 689 | 9719 | 600414 |
HP:0012103 | HP:0003514 | Deficiency or absence of cytochrome b(-245) | 2 | PEX5 CL E G H | 5830 | 214110 | Peroxisome biogenesis disorder 2a (zellweger) | 214110 | C1859228 | OMIM | 1 | | 689 | 9719 | 600414 |
HP:0012103 | HP:0100950 | Decreased 3-hydroxyacyl-CoA dehydrogenase level | 2 | PEX5 CL E G H | 5830 | 214110 | Peroxisome biogenesis disorder 2a (zellweger) | 214110 | C1859228 | OMIM | 1 | | 689 | 9719 | 600414 |
HP:0012103 | HP:0008265 | Mitochondrial lysine transport defect | 2 | PEX5 CL E G H | 5830 | 214110 | Peroxisome biogenesis disorder 2a (zellweger) | 214110 | C1859228 | OMIM | 1 | | 689 | 9719 | 600414 |
HP:0012103 | HP:0200125 | Mitochondrial respiratory chain defects | 2 | PEX5 CL E G H | 5830 | 214110 | Peroxisome biogenesis disorder 2a (zellweger) | 214110 | C1859228 | OMIM | 1 | | 689 | 9719 | 600414 |
HP:0012103 | HP:0008316 | Abnormal mitochondria in muscle tissue | 2 | PEX5 CL E G H | 5830 | 214110 | Peroxisome biogenesis disorder 2a (zellweger) | 214110 | C1859228 | OMIM | 1 | | 689 | 9719 | 600414 |
HP:0012103 | HP:0012102 | Abnormal mitochondrial number | 2 | PEX5 CL E G H | 5830 | 214110 | Peroxisome biogenesis disorder 2a (zellweger) | 214110 | C1859228 | OMIM | 1 | | 689 | 9719 | 600414 |
HP:0012103 | HP:0030059 | Mitochondrial depletion | 2 | PEX5 CL E G H | 5830 | 214110 | Peroxisome biogenesis disorder 2a (zellweger) | 214110 | C1859228 | OMIM | 1 | | 689 | 9719 | 600414 |
HP:0012103 | HP:0003288 | Mitochondrial propionyl-CoA carboxylase defect | 2 | PEX5 CL E G H | 5830 | 214110 | Peroxisome biogenesis disorder 2a (zellweger) | 214110 | C1859228 | OMIM | 1 | | 689 | 9719 | 600414 |
HP:0012103 | HP:0008306 | Abnormal iron deposition in mitochondria | 2 | PEX5 CL E G H | 5830 | 214110 | Peroxisome biogenesis disorder 2a (zellweger) | 214110 | C1859228 | OMIM | 1 | | 689 | 9719 | 600414 |
HP:0012103 | HP:0003234 | Decreased plasma carnitine | 2 | PEX5 CL E G H | 5830 | 214110 | Peroxisome biogenesis disorder 2a (zellweger) | 214110 | C1859228 | OMIM | 1 | | 689 | 9719 | 600414 |
HP:0012103 | HP:0012087 | Abnormal mitochondrial shape | 2 | PEX5 CL E G H | 5830 | 214110 | Peroxisome biogenesis disorder 2a (zellweger) | 214110 | C1859228 | OMIM | 1 | | 689 | 9719 | 600414 |
HP:0012103 | HP:0003647 | Electron transfer flavoprotein-ubiquinone oxidoreductase defect | 2 | PEX5 CL E G H | 5830 | 214110 | Peroxisome biogenesis disorder 2a (zellweger) | 214110 | C1859228 | OMIM | 1 | | 689 | 9719 | 600414 |
HP:0012103 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 2 | PEX5 CL E G H | 5830 | 214110 | Peroxisome biogenesis disorder 2a (zellweger) | 214110 | C1859228 | OMIM | 1 | | 689 | 9719 | 600414 |
HP:0012103 | HP:0100950 | Decreased 3-hydroxyacyl-CoA dehydrogenase level | 2 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0008265 | Mitochondrial lysine transport defect | 2 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0008316 | Abnormal mitochondria in muscle tissue | 2 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0012102 | Abnormal mitochondrial number | 2 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0030059 | Mitochondrial depletion | 2 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0200125 | Mitochondrial respiratory chain defects | 2 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0008306 | Abnormal iron deposition in mitochondria | 2 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0003234 | Decreased plasma carnitine | 2 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0012087 | Abnormal mitochondrial shape | 2 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0003647 | Electron transfer flavoprotein-ubiquinone oxidoreductase defect | 2 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 2 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0003288 | Mitochondrial propionyl-CoA carboxylase defect | 2 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 2 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0003514 | Deficiency or absence of cytochrome b(-245) | 2 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0003232 | Mitochondrial malic enzyme reduced | 2 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0008306 | Abnormal iron deposition in mitochondria | 2 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0003234 | Decreased plasma carnitine | 2 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0012087 | Abnormal mitochondrial shape | 2 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0003647 | Electron transfer flavoprotein-ubiquinone oxidoreductase defect | 2 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 2 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0003288 | Mitochondrial propionyl-CoA carboxylase defect | 2 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 2 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0003514 | Deficiency or absence of cytochrome b(-245) | 2 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0003232 | Mitochondrial malic enzyme reduced | 2 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0100950 | Decreased 3-hydroxyacyl-CoA dehydrogenase level | 2 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0008265 | Mitochondrial lysine transport defect | 2 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0008316 | Abnormal mitochondria in muscle tissue | 2 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0012102 | Abnormal mitochondrial number | 2 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0030059 | Mitochondrial depletion | 2 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0200125 | Mitochondrial respiratory chain defects | 2 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0003514 | Deficiency or absence of cytochrome b(-245) | 2 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 1 | | 240 | 9180 | 604983 |
HP:0012103 | HP:0003232 | Mitochondrial malic enzyme reduced | 2 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 1 | | 240 | 9180 | 604983 |
HP:0012103 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 2 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 1 | | 240 | 9180 | 604983 |
HP:0012103 | HP:0008265 | Mitochondrial lysine transport defect | 2 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 1 | | 240 | 9180 | 604983 |
HP:0012103 | HP:0100950 | Decreased 3-hydroxyacyl-CoA dehydrogenase level | 2 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 1 | | 240 | 9180 | 604983 |
HP:0012103 | HP:0030059 | Mitochondrial depletion | 2 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 1 | | 240 | 9180 | 604983 |
HP:0012103 | HP:0200125 | Mitochondrial respiratory chain defects | 2 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 1 | | 240 | 9180 | 604983 |
HP:0012103 | HP:0008316 | Abnormal mitochondria in muscle tissue | 2 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 1 | | 240 | 9180 | 604983 |
HP:0012103 | HP:0012102 | Abnormal mitochondrial number | 2 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 1 | | 240 | 9180 | 604983 |
HP:0012103 | HP:0012087 | Abnormal mitochondrial shape | 2 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 1 | | 240 | 9180 | 604983 |
HP:0012103 | HP:0003647 | Electron transfer flavoprotein-ubiquinone oxidoreductase defect | 2 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 1 | | 240 | 9180 | 604983 |
HP:0012103 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 2 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 1 | | 240 | 9180 | 604983 |
HP:0012103 | HP:0003288 | Mitochondrial propionyl-CoA carboxylase defect | 2 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 1 | | 240 | 9180 | 604983 |
HP:0012103 | HP:0008306 | Abnormal iron deposition in mitochondria | 2 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 1 | | 240 | 9180 | 604983 |
HP:0012103 | HP:0003234 | Decreased plasma carnitine | 2 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 1 | | 240 | 9180 | 604983 |
HP:0012103 | HP:0003288 | Mitochondrial propionyl-CoA carboxylase defect | 2 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0008306 | Abnormal iron deposition in mitochondria | 2 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0003234 | Decreased plasma carnitine | 2 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0012087 | Abnormal mitochondrial shape | 2 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0003647 | Electron transfer flavoprotein-ubiquinone oxidoreductase defect | 2 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 2 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0003232 | Mitochondrial malic enzyme reduced | 2 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 2 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0003514 | Deficiency or absence of cytochrome b(-245) | 2 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0100950 | Decreased 3-hydroxyacyl-CoA dehydrogenase level | 2 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0008265 | Mitochondrial lysine transport defect | 2 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0200125 | Mitochondrial respiratory chain defects | 2 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0008316 | Abnormal mitochondria in muscle tissue | 2 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0012102 | Abnormal mitochondrial number | 2 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0030059 | Mitochondrial depletion | 2 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0030059 | Mitochondrial depletion | 2 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0200125 | Mitochondrial respiratory chain defects | 2 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0008316 | Abnormal mitochondria in muscle tissue | 2 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0012102 | Abnormal mitochondrial number | 2 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0012087 | Abnormal mitochondrial shape | 2 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0003647 | Electron transfer flavoprotein-ubiquinone oxidoreductase defect | 2 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 2 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0003288 | Mitochondrial propionyl-CoA carboxylase defect | 2 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0008306 | Abnormal iron deposition in mitochondria | 2 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0003234 | Decreased plasma carnitine | 2 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0003514 | Deficiency or absence of cytochrome b(-245) | 2 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0003232 | Mitochondrial malic enzyme reduced | 2 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 2 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0008265 | Mitochondrial lysine transport defect | 2 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0100950 | Decreased 3-hydroxyacyl-CoA dehydrogenase level | 2 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0012087 | Abnormal mitochondrial shape | 2 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 114 | 10989 | 600370 |
HP:0012103 | HP:0003647 | Electron transfer flavoprotein-ubiquinone oxidoreductase defect | 2 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 114 | 10989 | 600370 |
HP:0012103 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 2 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 114 | 10989 | 600370 |
HP:0012103 | HP:0003288 | Mitochondrial propionyl-CoA carboxylase defect | 2 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 114 | 10989 | 600370 |
HP:0012103 | HP:0008306 | Abnormal iron deposition in mitochondria | 2 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 114 | 10989 | 600370 |
HP:0012103 | HP:0003234 | Decreased plasma carnitine | 2 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 114 | 10989 | 600370 |
HP:0012103 | HP:0003514 | Deficiency or absence of cytochrome b(-245) | 2 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 114 | 10989 | 600370 |
HP:0012103 | HP:0003232 | Mitochondrial malic enzyme reduced | 2 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 114 | 10989 | 600370 |
HP:0012103 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 2 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 114 | 10989 | 600370 |
HP:0012103 | HP:0008265 | Mitochondrial lysine transport defect | 2 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 114 | 10989 | 600370 |
HP:0012103 | HP:0100950 | Decreased 3-hydroxyacyl-CoA dehydrogenase level | 2 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 114 | 10989 | 600370 |
HP:0012103 | HP:0030059 | Mitochondrial depletion | 2 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 114 | 10989 | 600370 |
HP:0012103 | HP:0200125 | Mitochondrial respiratory chain defects | 2 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 114 | 10989 | 600370 |
HP:0012103 | HP:0008316 | Abnormal mitochondria in muscle tissue | 2 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 114 | 10989 | 600370 |
HP:0012103 | HP:0012102 | Abnormal mitochondrial number | 2 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 114 | 10989 | 600370 |
HP:0012103 | HP:0008316 | Abnormal mitochondria in muscle tissue | 2 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 1 | | 278 | 10990 | 103220 |
HP:0012103 | HP:0012102 | Abnormal mitochondrial number | 2 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 1 | | 278 | 10990 | 103220 |
HP:0012103 | HP:0030059 | Mitochondrial depletion | 2 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 1 | | 278 | 10990 | 103220 |
HP:0012103 | HP:0200125 | Mitochondrial respiratory chain defects | 2 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 1 | | 278 | 10990 | 103220 |
HP:0012103 | HP:0008306 | Abnormal iron deposition in mitochondria | 2 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 1 | | 278 | 10990 | 103220 |
HP:0012103 | HP:0003234 | Decreased plasma carnitine | 2 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 1 | | 278 | 10990 | 103220 |
HP:0012103 | HP:0012087 | Abnormal mitochondrial shape | 2 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 1 | | 278 | 10990 | 103220 |
HP:0012103 | HP:0003647 | Electron transfer flavoprotein-ubiquinone oxidoreductase defect | 2 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 1 | | 278 | 10990 | 103220 |
HP:0012103 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 2 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 1 | | 278 | 10990 | 103220 |
HP:0012103 | HP:0003288 | Mitochondrial propionyl-CoA carboxylase defect | 2 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 1 | | 278 | 10990 | 103220 |
HP:0012103 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 2 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 1 | | 278 | 10990 | 103220 |
HP:0012103 | HP:0003514 | Deficiency or absence of cytochrome b(-245) | 2 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 1 | | 278 | 10990 | 103220 |
HP:0012103 | HP:0003232 | Mitochondrial malic enzyme reduced | 2 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 1 | | 278 | 10990 | 103220 |
HP:0012103 | HP:0100950 | Decreased 3-hydroxyacyl-CoA dehydrogenase level | 2 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 1 | | 278 | 10990 | 103220 |
HP:0012103 | HP:0008265 | Mitochondrial lysine transport defect | 2 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 1 | | 278 | 10990 | 103220 |
HP:0012103 | HP:0008265 | Mitochondrial lysine transport defect | 2 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 1 | | 308 | 1160 | 606075 |
HP:0012103 | HP:0100950 | Decreased 3-hydroxyacyl-CoA dehydrogenase level | 2 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 1 | | 308 | 1160 | 606075 |
HP:0012103 | HP:0030059 | Mitochondrial depletion | 2 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 1 | | 308 | 1160 | 606075 |
HP:0012103 | HP:0200125 | Mitochondrial respiratory chain defects | 2 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 1 | | 308 | 1160 | 606075 |
HP:0012103 | HP:0008316 | Abnormal mitochondria in muscle tissue | 2 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 1 | | 308 | 1160 | 606075 |
HP:0012103 | HP:0012102 | Abnormal mitochondrial number | 2 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 1 | | 308 | 1160 | 606075 |
HP:0012103 | HP:0012087 | Abnormal mitochondrial shape | 2 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 1 | | 308 | 1160 | 606075 |
HP:0012103 | HP:0003647 | Electron transfer flavoprotein-ubiquinone oxidoreductase defect | 2 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 1 | | 308 | 1160 | 606075 |
HP:0012103 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 2 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 1 | | 308 | 1160 | 606075 |
HP:0012103 | HP:0003288 | Mitochondrial propionyl-CoA carboxylase defect | 2 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 1 | | 308 | 1160 | 606075 |
HP:0012103 | HP:0008306 | Abnormal iron deposition in mitochondria | 2 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 1 | | 308 | 1160 | 606075 |
HP:0012103 | HP:0003234 | Decreased plasma carnitine | 2 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 1 | | 308 | 1160 | 606075 |
HP:0012103 | HP:0003514 | Deficiency or absence of cytochrome b(-245) | 2 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 1 | | 308 | 1160 | 606075 |
HP:0012103 | HP:0003232 | Mitochondrial malic enzyme reduced | 2 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 1 | | 308 | 1160 | 606075 |
HP:0012103 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 2 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 1 | | 308 | 1160 | 606075 |
HP:0012103 | HP:0100950 | Decreased 3-hydroxyacyl-CoA dehydrogenase level | 2 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 803 | 3148 | 131222 |
HP:0012103 | HP:0008265 | Mitochondrial lysine transport defect | 2 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 803 | 3148 | 131222 |
HP:0012103 | HP:0200125 | Mitochondrial respiratory chain defects | 2 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 803 | 3148 | 131222 |
HP:0012103 | HP:0008316 | Abnormal mitochondria in muscle tissue | 2 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 803 | 3148 | 131222 |
HP:0012103 | HP:0012102 | Abnormal mitochondrial number | 2 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 803 | 3148 | 131222 |
HP:0012103 | HP:0030059 | Mitochondrial depletion | 2 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 803 | 3148 | 131222 |
HP:0012103 | HP:0003288 | Mitochondrial propionyl-CoA carboxylase defect | 2 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 803 | 3148 | 131222 |
HP:0012103 | HP:0008306 | Abnormal iron deposition in mitochondria | 2 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 803 | 3148 | 131222 |
HP:0012103 | HP:0003234 | Decreased plasma carnitine | 2 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 803 | 3148 | 131222 |
HP:0012103 | HP:0012087 | Abnormal mitochondrial shape | 2 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 803 | 3148 | 131222 |
HP:0012103 | HP:0003647 | Electron transfer flavoprotein-ubiquinone oxidoreductase defect | 2 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 803 | 3148 | 131222 |
HP:0012103 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 2 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 803 | 3148 | 131222 |
HP:0012103 | HP:0003232 | Mitochondrial malic enzyme reduced | 2 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 803 | 3148 | 131222 |
HP:0012103 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 2 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 803 | 3148 | 131222 |
HP:0012103 | HP:0003514 | Deficiency or absence of cytochrome b(-245) | 2 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 803 | 3148 | 131222 |
HP:0012103 | HP:0040015 | Increased activity of mitochondrial respiratory chain | 3 | GNE CL E G H | 10020 | 3166 | Ladda Zonana Ramer syndrome | | | ORPHA | 1 | | 783 | 23657 | 603824 |
HP:0012103 | HP:0040014 | Increased mitochondrial number | 3 | GNE CL E G H | 10020 | 3166 | Ladda Zonana Ramer syndrome | | | ORPHA | 1 | | 783 | 23657 | 603824 |
HP:0012103 | HP:0040013 | Decreased mitochondrial number | 3 | GNE CL E G H | 10020 | 3166 | Ladda Zonana Ramer syndrome | | | ORPHA | 1 | | 783 | 23657 | 603824 |
HP:0012103 | HP:0011936 | Decreased plasma total carnitine | 3 | GNE CL E G H | 10020 | 3166 | Ladda Zonana Ramer syndrome | | | ORPHA | 1 | | 783 | 23657 | 603824 |
HP:0012103 | HP:0030774 | Mitochondrial swelling | 3 | GNE CL E G H | 10020 | 3166 | Ladda Zonana Ramer syndrome | | | ORPHA | 1 | | 783 | 23657 | 603824 |
HP:0012103 | HP:0008315 | Decreased plasma free carnitine | 3 | GNE CL E G H | 10020 | 3166 | Ladda Zonana Ramer syndrome | | | ORPHA | 1 | | 783 | 23657 | 603824 |
HP:0012103 | HP:0033686 | Mitochondrial hypertrophy | 3 | GNE CL E G H | 10020 | 3166 | Ladda Zonana Ramer syndrome | | | ORPHA | 1 | | 783 | 23657 | 603824 |
HP:0012103 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 3 | GNE CL E G H | 10020 | 3166 | Ladda Zonana Ramer syndrome | | | ORPHA | 1 | | 783 | 23657 | 603824 |
HP:0012103 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 3 | KCNJ10 CL E G H | 3766 | 199343 | | | | ORPHA | 1 | | 335 | 6256 | 602208 |
HP:0012103 | HP:0008315 | Decreased plasma free carnitine | 3 | KCNJ10 CL E G H | 3766 | 199343 | | | | ORPHA | 1 | | 335 | 6256 | 602208 |
HP:0012103 | HP:0033686 | Mitochondrial hypertrophy | 3 | KCNJ10 CL E G H | 3766 | 199343 | | | | ORPHA | 1 | | 335 | 6256 | 602208 |
HP:0012103 | HP:0040015 | Increased activity of mitochondrial respiratory chain | 3 | KCNJ10 CL E G H | 3766 | 199343 | | | | ORPHA | 1 | | 335 | 6256 | 602208 |
HP:0012103 | HP:0040014 | Increased mitochondrial number | 3 | KCNJ10 CL E G H | 3766 | 199343 | | | | ORPHA | 1 | | 335 | 6256 | 602208 |
HP:0012103 | HP:0040013 | Decreased mitochondrial number | 3 | KCNJ10 CL E G H | 3766 | 199343 | | | | ORPHA | 1 | | 335 | 6256 | 602208 |
HP:0012103 | HP:0011936 | Decreased plasma total carnitine | 3 | KCNJ10 CL E G H | 3766 | 199343 | | | | ORPHA | 1 | | 335 | 6256 | 602208 |
HP:0012103 | HP:0030774 | Mitochondrial swelling | 3 | KCNJ10 CL E G H | 3766 | 199343 | | | | ORPHA | 1 | | 335 | 6256 | 602208 |
HP:0012103 | HP:0040015 | Increased activity of mitochondrial respiratory chain | 3 | PEX5 CL E G H | 5830 | 214110 | Peroxisome biogenesis disorder 2a (zellweger) | 214110 | C1859228 | OMIM | 1 | | 689 | 9719 | 600414 |
HP:0012103 | HP:0040014 | Increased mitochondrial number | 3 | PEX5 CL E G H | 5830 | 214110 | Peroxisome biogenesis disorder 2a (zellweger) | 214110 | C1859228 | OMIM | 1 | | 689 | 9719 | 600414 |
HP:0012103 | HP:0040013 | Decreased mitochondrial number | 3 | PEX5 CL E G H | 5830 | 214110 | Peroxisome biogenesis disorder 2a (zellweger) | 214110 | C1859228 | OMIM | 1 | | 689 | 9719 | 600414 |
HP:0012103 | HP:0011936 | Decreased plasma total carnitine | 3 | PEX5 CL E G H | 5830 | 214110 | Peroxisome biogenesis disorder 2a (zellweger) | 214110 | C1859228 | OMIM | 1 | | 689 | 9719 | 600414 |
HP:0012103 | HP:0030774 | Mitochondrial swelling | 3 | PEX5 CL E G H | 5830 | 214110 | Peroxisome biogenesis disorder 2a (zellweger) | 214110 | C1859228 | OMIM | 1 | | 689 | 9719 | 600414 |
HP:0012103 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 3 | PEX5 CL E G H | 5830 | 214110 | Peroxisome biogenesis disorder 2a (zellweger) | 214110 | C1859228 | OMIM | 1 | | 689 | 9719 | 600414 |
HP:0012103 | HP:0008315 | Decreased plasma free carnitine | 3 | PEX5 CL E G H | 5830 | 214110 | Peroxisome biogenesis disorder 2a (zellweger) | 214110 | C1859228 | OMIM | 1 | | 689 | 9719 | 600414 |
HP:0012103 | HP:0033686 | Mitochondrial hypertrophy | 3 | PEX5 CL E G H | 5830 | 214110 | Peroxisome biogenesis disorder 2a (zellweger) | 214110 | C1859228 | OMIM | 1 | | 689 | 9719 | 600414 |
HP:0012103 | HP:0040013 | Decreased mitochondrial number | 3 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0011936 | Decreased plasma total carnitine | 3 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0030774 | Mitochondrial swelling | 3 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0008315 | Decreased plasma free carnitine | 3 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0033686 | Mitochondrial hypertrophy | 3 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 3 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0040015 | Increased activity of mitochondrial respiratory chain | 3 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0040014 | Increased mitochondrial number | 3 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0040015 | Increased activity of mitochondrial respiratory chain | 3 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0040014 | Increased mitochondrial number | 3 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0040013 | Decreased mitochondrial number | 3 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0011936 | Decreased plasma total carnitine | 3 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0030774 | Mitochondrial swelling | 3 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0008315 | Decreased plasma free carnitine | 3 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0033686 | Mitochondrial hypertrophy | 3 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 3 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0040014 | Increased mitochondrial number | 3 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 1 | | 240 | 9180 | 604983 |
HP:0012103 | HP:0040015 | Increased activity of mitochondrial respiratory chain | 3 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 1 | | 240 | 9180 | 604983 |
HP:0012103 | HP:0011936 | Decreased plasma total carnitine | 3 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 1 | | 240 | 9180 | 604983 |
HP:0012103 | HP:0030774 | Mitochondrial swelling | 3 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 1 | | 240 | 9180 | 604983 |
HP:0012103 | HP:0040013 | Decreased mitochondrial number | 3 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 1 | | 240 | 9180 | 604983 |
HP:0012103 | HP:0008315 | Decreased plasma free carnitine | 3 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 1 | | 240 | 9180 | 604983 |
HP:0012103 | HP:0033686 | Mitochondrial hypertrophy | 3 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 1 | | 240 | 9180 | 604983 |
HP:0012103 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 3 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 1 | | 240 | 9180 | 604983 |
HP:0012103 | HP:0040015 | Increased activity of mitochondrial respiratory chain | 3 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0040014 | Increased mitochondrial number | 3 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0040013 | Decreased mitochondrial number | 3 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0011936 | Decreased plasma total carnitine | 3 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0030774 | Mitochondrial swelling | 3 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 3 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0008315 | Decreased plasma free carnitine | 3 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0033686 | Mitochondrial hypertrophy | 3 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0008315 | Decreased plasma free carnitine | 3 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0033686 | Mitochondrial hypertrophy | 3 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 3 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0040014 | Increased mitochondrial number | 3 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0040015 | Increased activity of mitochondrial respiratory chain | 3 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0040013 | Decreased mitochondrial number | 3 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0011936 | Decreased plasma total carnitine | 3 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0030774 | Mitochondrial swelling | 3 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0040014 | Increased mitochondrial number | 3 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 114 | 10989 | 600370 |
HP:0012103 | HP:0040015 | Increased activity of mitochondrial respiratory chain | 3 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 114 | 10989 | 600370 |
HP:0012103 | HP:0011936 | Decreased plasma total carnitine | 3 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 114 | 10989 | 600370 |
HP:0012103 | HP:0030774 | Mitochondrial swelling | 3 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 114 | 10989 | 600370 |
HP:0012103 | HP:0040013 | Decreased mitochondrial number | 3 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 114 | 10989 | 600370 |
HP:0012103 | HP:0008315 | Decreased plasma free carnitine | 3 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 114 | 10989 | 600370 |
HP:0012103 | HP:0033686 | Mitochondrial hypertrophy | 3 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 114 | 10989 | 600370 |
HP:0012103 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 3 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 114 | 10989 | 600370 |
HP:0012103 | HP:0008315 | Decreased plasma free carnitine | 3 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 1 | | 278 | 10990 | 103220 |
HP:0012103 | HP:0033686 | Mitochondrial hypertrophy | 3 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 1 | | 278 | 10990 | 103220 |
HP:0012103 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 3 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 1 | | 278 | 10990 | 103220 |
HP:0012103 | HP:0040015 | Increased activity of mitochondrial respiratory chain | 3 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 1 | | 278 | 10990 | 103220 |
HP:0012103 | HP:0040014 | Increased mitochondrial number | 3 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 1 | | 278 | 10990 | 103220 |
HP:0012103 | HP:0040013 | Decreased mitochondrial number | 3 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 1 | | 278 | 10990 | 103220 |
HP:0012103 | HP:0011936 | Decreased plasma total carnitine | 3 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 1 | | 278 | 10990 | 103220 |
HP:0012103 | HP:0030774 | Mitochondrial swelling | 3 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 1 | | 278 | 10990 | 103220 |
HP:0012103 | HP:0011936 | Decreased plasma total carnitine | 3 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 1 | | 308 | 1160 | 606075 |
HP:0012103 | HP:0030774 | Mitochondrial swelling | 3 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 1 | | 308 | 1160 | 606075 |
HP:0012103 | HP:0040013 | Decreased mitochondrial number | 3 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 1 | | 308 | 1160 | 606075 |
HP:0012103 | HP:0008315 | Decreased plasma free carnitine | 3 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 1 | | 308 | 1160 | 606075 |
HP:0012103 | HP:0033686 | Mitochondrial hypertrophy | 3 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 1 | | 308 | 1160 | 606075 |
HP:0012103 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 3 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 1 | | 308 | 1160 | 606075 |
HP:0012103 | HP:0040014 | Increased mitochondrial number | 3 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 1 | | 308 | 1160 | 606075 |
HP:0012103 | HP:0040015 | Increased activity of mitochondrial respiratory chain | 3 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 1 | | 308 | 1160 | 606075 |
HP:0012103 | HP:0040013 | Decreased mitochondrial number | 3 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 803 | 3148 | 131222 |
HP:0012103 | HP:0011936 | Decreased plasma total carnitine | 3 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 803 | 3148 | 131222 |
HP:0012103 | HP:0030774 | Mitochondrial swelling | 3 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 803 | 3148 | 131222 |
HP:0012103 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 3 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 803 | 3148 | 131222 |
HP:0012103 | HP:0008315 | Decreased plasma free carnitine | 3 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 803 | 3148 | 131222 |
HP:0012103 | HP:0033686 | Mitochondrial hypertrophy | 3 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 803 | 3148 | 131222 |
HP:0012103 | HP:0040015 | Increased activity of mitochondrial respiratory chain | 3 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 803 | 3148 | 131222 |
HP:0012103 | HP:0040014 | Increased mitochondrial number | 3 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 803 | 3148 | 131222 |
HP:0012103 | HP:0011923 | Decreased activity of mitochondrial complex I | 4 | GNE CL E G H | 10020 | 3166 | Ladda Zonana Ramer syndrome | | | ORPHA | 1 | | 783 | 23657 | 603824 |
HP:0012103 | HP:0011925 | Decreased activity of mitochondrial ATP synthase complex | 4 | GNE CL E G H | 10020 | 3166 | Ladda Zonana Ramer syndrome | | | ORPHA | 1 | | 783 | 23657 | 603824 |
HP:0012103 | HP:0008347 | Decreased activity of mitochondrial complex IV | 4 | GNE CL E G H | 10020 | 3166 | Ladda Zonana Ramer syndrome | | | ORPHA | 1 | | 783 | 23657 | 603824 |
HP:0012103 | HP:0011924 | Decreased activity of mitochondrial complex III | 4 | GNE CL E G H | 10020 | 3166 | Ladda Zonana Ramer syndrome | | | ORPHA | 1 | | 783 | 23657 | 603824 |
HP:0012103 | HP:0008314 | Decreased activity of mitochondrial complex II | 4 | GNE CL E G H | 10020 | 3166 | Ladda Zonana Ramer syndrome | | | ORPHA | 1 | | 783 | 23657 | 603824 |
HP:0012103 | HP:0011924 | Decreased activity of mitochondrial complex III | 4 | KCNJ10 CL E G H | 3766 | 199343 | | | | ORPHA | 1 | | 335 | 6256 | 602208 |
HP:0012103 | HP:0008314 | Decreased activity of mitochondrial complex II | 4 | KCNJ10 CL E G H | 3766 | 199343 | | | | ORPHA | 1 | | 335 | 6256 | 602208 |
HP:0012103 | HP:0011923 | Decreased activity of mitochondrial complex I | 4 | KCNJ10 CL E G H | 3766 | 199343 | | | | ORPHA | 1 | | 335 | 6256 | 602208 |
HP:0012103 | HP:0011925 | Decreased activity of mitochondrial ATP synthase complex | 4 | KCNJ10 CL E G H | 3766 | 199343 | | | | ORPHA | 1 | | 335 | 6256 | 602208 |
HP:0012103 | HP:0008347 | Decreased activity of mitochondrial complex IV | 4 | KCNJ10 CL E G H | 3766 | 199343 | | | | ORPHA | 1 | | 335 | 6256 | 602208 |
HP:0012103 | HP:0011923 | Decreased activity of mitochondrial complex I | 4 | PEX5 CL E G H | 5830 | 214110 | Peroxisome biogenesis disorder 2a (zellweger) | 214110 | C1859228 | OMIM | 1 | | 689 | 9719 | 600414 |
HP:0012103 | HP:0011925 | Decreased activity of mitochondrial ATP synthase complex | 4 | PEX5 CL E G H | 5830 | 214110 | Peroxisome biogenesis disorder 2a (zellweger) | 214110 | C1859228 | OMIM | 1 | | 689 | 9719 | 600414 |
HP:0012103 | HP:0008347 | Decreased activity of mitochondrial complex IV | 4 | PEX5 CL E G H | 5830 | 214110 | Peroxisome biogenesis disorder 2a (zellweger) | 214110 | C1859228 | OMIM | 1 | | 689 | 9719 | 600414 |
HP:0012103 | HP:0011924 | Decreased activity of mitochondrial complex III | 4 | PEX5 CL E G H | 5830 | 214110 | Peroxisome biogenesis disorder 2a (zellweger) | 214110 | C1859228 | OMIM | 1 | | 689 | 9719 | 600414 |
HP:0012103 | HP:0008314 | Decreased activity of mitochondrial complex II | 4 | PEX5 CL E G H | 5830 | 214110 | Peroxisome biogenesis disorder 2a (zellweger) | 214110 | C1859228 | OMIM | 1 | | 689 | 9719 | 600414 |
HP:0012103 | HP:0011925 | Decreased activity of mitochondrial ATP synthase complex | 4 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0008347 | Decreased activity of mitochondrial complex IV | 4 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0011924 | Decreased activity of mitochondrial complex III | 4 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0008314 | Decreased activity of mitochondrial complex II | 4 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0011923 | Decreased activity of mitochondrial complex I | 4 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0008314 | Decreased activity of mitochondrial complex II | 4 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0011923 | Decreased activity of mitochondrial complex I | 4 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0011925 | Decreased activity of mitochondrial ATP synthase complex | 4 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0008347 | Decreased activity of mitochondrial complex IV | 4 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0011924 | Decreased activity of mitochondrial complex III | 4 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0012103 | HP:0011923 | Decreased activity of mitochondrial complex I | 4 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 1 | | 240 | 9180 | 604983 |
HP:0012103 | HP:0011925 | Decreased activity of mitochondrial ATP synthase complex | 4 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 1 | | 240 | 9180 | 604983 |
HP:0012103 | HP:0008347 | Decreased activity of mitochondrial complex IV | 4 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 1 | | 240 | 9180 | 604983 |
HP:0012103 | HP:0011924 | Decreased activity of mitochondrial complex III | 4 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 1 | | 240 | 9180 | 604983 |
HP:0012103 | HP:0008314 | Decreased activity of mitochondrial complex II | 4 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 1 | | 240 | 9180 | 604983 |
HP:0012103 | HP:0008314 | Decreased activity of mitochondrial complex II | 4 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0011923 | Decreased activity of mitochondrial complex I | 4 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0011925 | Decreased activity of mitochondrial ATP synthase complex | 4 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0008347 | Decreased activity of mitochondrial complex IV | 4 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0011924 | Decreased activity of mitochondrial complex III | 4 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0011924 | Decreased activity of mitochondrial complex III | 4 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0008314 | Decreased activity of mitochondrial complex II | 4 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0011923 | Decreased activity of mitochondrial complex I | 4 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0011925 | Decreased activity of mitochondrial ATP synthase complex | 4 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0008347 | Decreased activity of mitochondrial complex IV | 4 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0012103 | HP:0008314 | Decreased activity of mitochondrial complex II | 4 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 114 | 10989 | 600370 |
HP:0012103 | HP:0011923 | Decreased activity of mitochondrial complex I | 4 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 114 | 10989 | 600370 |
HP:0012103 | HP:0011925 | Decreased activity of mitochondrial ATP synthase complex | 4 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 114 | 10989 | 600370 |
HP:0012103 | HP:0008347 | Decreased activity of mitochondrial complex IV | 4 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 114 | 10989 | 600370 |
HP:0012103 | HP:0011924 | Decreased activity of mitochondrial complex III | 4 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 114 | 10989 | 600370 |
HP:0012103 | HP:0011924 | Decreased activity of mitochondrial complex III | 4 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 1 | | 278 | 10990 | 103220 |
HP:0012103 | HP:0008314 | Decreased activity of mitochondrial complex II | 4 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 1 | | 278 | 10990 | 103220 |
HP:0012103 | HP:0011923 | Decreased activity of mitochondrial complex I | 4 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 1 | | 278 | 10990 | 103220 |
HP:0012103 | HP:0011925 | Decreased activity of mitochondrial ATP synthase complex | 4 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 1 | | 278 | 10990 | 103220 |
HP:0012103 | HP:0008347 | Decreased activity of mitochondrial complex IV | 4 | SLC25A4 CL E G H | 291 | 254892 | | | | ORPHA | 1 | | 278 | 10990 | 103220 |
HP:0012103 | HP:0011925 | Decreased activity of mitochondrial ATP synthase complex | 4 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 1 | | 308 | 1160 | 606075 |
HP:0012103 | HP:0008347 | Decreased activity of mitochondrial complex IV | 4 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 1 | | 308 | 1160 | 606075 |
HP:0012103 | HP:0011924 | Decreased activity of mitochondrial complex III | 4 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 1 | | 308 | 1160 | 606075 |
HP:0012103 | HP:0008314 | Decreased activity of mitochondrial complex II | 4 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 1 | | 308 | 1160 | 606075 |
HP:0012103 | HP:0011923 | Decreased activity of mitochondrial complex I | 4 | TWNK CL E G H | 56652 | 254892 | | | | ORPHA | 1 | | 308 | 1160 | 606075 |
HP:0012103 | HP:0011925 | Decreased activity of mitochondrial ATP synthase complex | 4 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 803 | 3148 | 131222 |
HP:0012103 | HP:0008347 | Decreased activity of mitochondrial complex IV | 4 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 803 | 3148 | 131222 |
HP:0012103 | HP:0011924 | Decreased activity of mitochondrial complex III | 4 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 803 | 3148 | 131222 |
HP:0012103 | HP:0008314 | Decreased activity of mitochondrial complex II | 4 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 803 | 3148 | 131222 |
HP:0012103 | HP:0011923 | Decreased activity of mitochondrial complex I | 4 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 803 | 3148 | 131222 |
HPO disease - gene - phenotype less frequent non-typical associations: |