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:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | AK2 CL E G H | 204 | 33355 | | | | ORPHA | 1 | | 178 | 362 | 103020 |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 1 | | 995 | 2976 | 126375 |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 178 | 27302 | 615316 |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0003287 | HP:0003232 | Mitochondrial malic enzyme reduced | 1 | AK2 CL E G H | 204 | 33355 | | | | ORPHA | 1 | | 178 | 362 | 103020 |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | AK2 CL E G H | 204 | 33355 | | | | ORPHA | 1 | | 178 | 362 | 103020 |
HP:0003287 | HP:0003514 | Deficiency or absence of cytochrome b(-245) | 1 | AK2 CL E G H | 204 | 33355 | | | | ORPHA | 1 | | 178 | 362 | 103020 |
HP:0003287 | HP:0008265 | Mitochondrial lysine transport defect | 1 | AK2 CL E G H | 204 | 33355 | | | | ORPHA | 1 | | 178 | 362 | 103020 |
HP:0003287 | HP:0100950 | Decreased 3-hydroxyacyl-CoA dehydrogenase level | 1 | AK2 CL E G H | 204 | 33355 | | | | ORPHA | 1 | | 178 | 362 | 103020 |
HP:0003287 | HP:0030059 | Mitochondrial depletion | 1 | AK2 CL E G H | 204 | 33355 | | | | ORPHA | 1 | | 178 | 362 | 103020 |
HP:0003287 | HP:0200125 | Mitochondrial respiratory chain defects | 1 | AK2 CL E G H | 204 | 33355 | | | | ORPHA | 1 | | 178 | 362 | 103020 |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | AK2 CL E G H | 204 | 33355 | | | | ORPHA | 1 | | 178 | 362 | 103020 |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | AK2 CL E G H | 204 | 33355 | | | | ORPHA | 1 | | 178 | 362 | 103020 |
HP:0003287 | HP:0003288 | Mitochondrial propionyl-CoA carboxylase defect | 1 | AK2 CL E G H | 204 | 33355 | | | | ORPHA | 1 | | 178 | 362 | 103020 |
HP:0003287 | HP:0008306 | Abnormal iron deposition in mitochondria | 1 | AK2 CL E G H | 204 | 33355 | | | | ORPHA | 1 | | 178 | 362 | 103020 |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | AK2 CL E G H | 204 | 33355 | | | | ORPHA | 1 | | 178 | 362 | 103020 |
HP:0003287 | HP:0003647 | Electron transfer flavoprotein-ubiquinone oxidoreductase defect | 1 | AK2 CL E G H | 204 | 33355 | | | | ORPHA | 1 | | 178 | 362 | 103020 |
HP:0003287 | HP:0003647 | Electron transfer flavoprotein-ubiquinone oxidoreductase defect | 1 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 1 | | 995 | 2976 | 126375 |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 1 | | 995 | 2976 | 126375 |
HP:0003287 | HP:0003288 | Mitochondrial propionyl-CoA carboxylase defect | 1 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 1 | | 995 | 2976 | 126375 |
HP:0003287 | HP:0008306 | Abnormal iron deposition in mitochondria | 1 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 1 | | 995 | 2976 | 126375 |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 1 | | 995 | 2976 | 126375 |
HP:0003287 | HP:0003514 | Deficiency or absence of cytochrome b(-245) | 1 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 1 | | 995 | 2976 | 126375 |
HP:0003287 | HP:0003232 | Mitochondrial malic enzyme reduced | 1 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 1 | | 995 | 2976 | 126375 |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 1 | | 995 | 2976 | 126375 |
HP:0003287 | HP:0008265 | Mitochondrial lysine transport defect | 1 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 1 | | 995 | 2976 | 126375 |
HP:0003287 | HP:0100950 | Decreased 3-hydroxyacyl-CoA dehydrogenase level | 1 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 1 | | 995 | 2976 | 126375 |
HP:0003287 | HP:0030059 | Mitochondrial depletion | 1 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 1 | | 995 | 2976 | 126375 |
HP:0003287 | HP:0200125 | Mitochondrial respiratory chain defects | 1 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 1 | | 995 | 2976 | 126375 |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 1 | | 995 | 2976 | 126375 |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 178 | 27302 | 615316 |
HP:0003287 | HP:0003647 | Electron transfer flavoprotein-ubiquinone oxidoreductase defect | 1 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 178 | 27302 | 615316 |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 178 | 27302 | 615316 |
HP:0003287 | HP:0003288 | Mitochondrial propionyl-CoA carboxylase defect | 1 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 178 | 27302 | 615316 |
HP:0003287 | HP:0008306 | Abnormal iron deposition in mitochondria | 1 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 178 | 27302 | 615316 |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 178 | 27302 | 615316 |
HP:0003287 | HP:0003514 | Deficiency or absence of cytochrome b(-245) | 1 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 178 | 27302 | 615316 |
HP:0003287 | HP:0003232 | Mitochondrial malic enzyme reduced | 1 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 178 | 27302 | 615316 |
HP:0003287 | HP:0100950 | Decreased 3-hydroxyacyl-CoA dehydrogenase level | 1 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 178 | 27302 | 615316 |
HP:0003287 | HP:0008265 | Mitochondrial lysine transport defect | 1 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 178 | 27302 | 615316 |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 178 | 27302 | 615316 |
HP:0003287 | HP:0030059 | Mitochondrial depletion | 1 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 178 | 27302 | 615316 |
HP:0003287 | HP:0200125 | Mitochondrial respiratory chain defects | 1 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 178 | 27302 | 615316 |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0003287 | HP:0030059 | Mitochondrial depletion | 1 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0003287 | HP:0200125 | Mitochondrial respiratory chain defects | 1 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0003287 | HP:0008306 | Abnormal iron deposition in mitochondria | 1 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0003287 | HP:0003647 | Electron transfer flavoprotein-ubiquinone oxidoreductase defect | 1 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0003287 | HP:0003288 | Mitochondrial propionyl-CoA carboxylase defect | 1 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0003287 | HP:0003514 | Deficiency or absence of cytochrome b(-245) | 1 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0003287 | HP:0003232 | Mitochondrial malic enzyme reduced | 1 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0003287 | HP:0100950 | Decreased 3-hydroxyacyl-CoA dehydrogenase level | 1 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0003287 | HP:0008265 | Mitochondrial lysine transport defect | 1 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0003287 | HP:0008265 | Mitochondrial lysine transport defect | 1 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0003287 | HP:0100950 | Decreased 3-hydroxyacyl-CoA dehydrogenase level | 1 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0003287 | HP:0200125 | Mitochondrial respiratory chain defects | 1 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0003287 | HP:0030059 | Mitochondrial depletion | 1 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0003287 | HP:0003288 | Mitochondrial propionyl-CoA carboxylase defect | 1 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0003287 | HP:0008306 | Abnormal iron deposition in mitochondria | 1 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0003287 | HP:0003647 | Electron transfer flavoprotein-ubiquinone oxidoreductase defect | 1 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0003287 | HP:0003232 | Mitochondrial malic enzyme reduced | 1 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0003287 | HP:0003514 | Deficiency or absence of cytochrome b(-245) | 1 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0003287 | HP:0003514 | Deficiency or absence of cytochrome b(-245) | 1 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0003287 | HP:0003232 | Mitochondrial malic enzyme reduced | 1 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0003287 | HP:0008265 | Mitochondrial lysine transport defect | 1 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0003287 | HP:0100950 | Decreased 3-hydroxyacyl-CoA dehydrogenase level | 1 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0003287 | HP:0030059 | Mitochondrial depletion | 1 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0003287 | HP:0200125 | Mitochondrial respiratory chain defects | 1 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0003287 | HP:0003647 | Electron transfer flavoprotein-ubiquinone oxidoreductase defect | 1 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0003287 | HP:0003288 | Mitochondrial propionyl-CoA carboxylase defect | 1 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0003287 | HP:0008306 | Abnormal iron deposition in mitochondria | 1 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0003287 | HP:0003647 | Electron transfer flavoprotein-ubiquinone oxidoreductase defect | 1 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0003287 | HP:0003288 | Mitochondrial propionyl-CoA carboxylase defect | 1 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0003287 | HP:0008306 | Abnormal iron deposition in mitochondria | 1 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0003287 | HP:0003514 | Deficiency or absence of cytochrome b(-245) | 1 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0003287 | HP:0003232 | Mitochondrial malic enzyme reduced | 1 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0003287 | HP:0100950 | Decreased 3-hydroxyacyl-CoA dehydrogenase level | 1 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0003287 | HP:0008265 | Mitochondrial lysine transport defect | 1 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0003287 | HP:0030059 | Mitochondrial depletion | 1 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0003287 | HP:0200125 | Mitochondrial respiratory chain defects | 1 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0003287 | HP:0030059 | Mitochondrial depletion | 1 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0003287 | HP:0200125 | Mitochondrial respiratory chain defects | 1 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0003287 | HP:0008306 | Abnormal iron deposition in mitochondria | 1 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0003287 | HP:0003647 | Electron transfer flavoprotein-ubiquinone oxidoreductase defect | 1 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0003287 | HP:0003288 | Mitochondrial propionyl-CoA carboxylase defect | 1 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0003287 | HP:0003514 | Deficiency or absence of cytochrome b(-245) | 1 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0003287 | HP:0003232 | Mitochondrial malic enzyme reduced | 1 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0003287 | HP:0100950 | Decreased 3-hydroxyacyl-CoA dehydrogenase level | 1 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0003287 | HP:0008265 | Mitochondrial lysine transport defect | 1 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0003287 | HP:0100950 | Decreased 3-hydroxyacyl-CoA dehydrogenase level | 1 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0003287 | HP:0008265 | Mitochondrial lysine transport defect | 1 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0003287 | HP:0200125 | Mitochondrial respiratory chain defects | 1 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0003287 | HP:0030059 | Mitochondrial depletion | 1 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0003287 | HP:0003288 | Mitochondrial propionyl-CoA carboxylase defect | 1 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0003287 | HP:0008306 | Abnormal iron deposition in mitochondria | 1 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0003287 | HP:0003647 | Electron transfer flavoprotein-ubiquinone oxidoreductase defect | 1 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0003287 | HP:0003514 | Deficiency or absence of cytochrome b(-245) | 1 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0003287 | HP:0003232 | Mitochondrial malic enzyme reduced | 1 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0003287 | HP:0003514 | Deficiency or absence of cytochrome b(-245) | 1 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0003287 | HP:0003232 | Mitochondrial malic enzyme reduced | 1 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0003287 | HP:0008265 | Mitochondrial lysine transport defect | 1 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0003287 | HP:0100950 | Decreased 3-hydroxyacyl-CoA dehydrogenase level | 1 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0003287 | HP:0030059 | Mitochondrial depletion | 1 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0003287 | HP:0200125 | Mitochondrial respiratory chain defects | 1 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0003287 | HP:0003647 | Electron transfer flavoprotein-ubiquinone oxidoreductase defect | 1 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0003287 | HP:0003288 | Mitochondrial propionyl-CoA carboxylase defect | 1 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0003287 | HP:0008306 | Abnormal iron deposition in mitochondria | 1 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0003287 | HP:0003647 | Electron transfer flavoprotein-ubiquinone oxidoreductase defect | 1 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0003287 | HP:0003288 | Mitochondrial propionyl-CoA carboxylase defect | 1 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0003287 | HP:0008306 | Abnormal iron deposition in mitochondria | 1 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0003287 | HP:0003514 | Deficiency or absence of cytochrome b(-245) | 1 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0003287 | HP:0003232 | Mitochondrial malic enzyme reduced | 1 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0003287 | HP:0008265 | Mitochondrial lysine transport defect | 1 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0003287 | HP:0100950 | Decreased 3-hydroxyacyl-CoA dehydrogenase level | 1 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0003287 | HP:0030059 | Mitochondrial depletion | 1 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0003287 | HP:0200125 | Mitochondrial respiratory chain defects | 1 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0003287 | HP:0030059 | Mitochondrial depletion | 1 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0003287 | HP:0200125 | Mitochondrial respiratory chain defects | 1 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0003287 | HP:0008306 | Abnormal iron deposition in mitochondria | 1 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0003287 | HP:0003647 | Electron transfer flavoprotein-ubiquinone oxidoreductase defect | 1 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0003287 | HP:0003288 | Mitochondrial propionyl-CoA carboxylase defect | 1 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0003287 | HP:0003514 | Deficiency or absence of cytochrome b(-245) | 1 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0003287 | HP:0003232 | Mitochondrial malic enzyme reduced | 1 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0003287 | HP:0100950 | Decreased 3-hydroxyacyl-CoA dehydrogenase level | 1 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0003287 | HP:0008265 | Mitochondrial lysine transport defect | 1 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0003287 | HP:0100950 | Decreased 3-hydroxyacyl-CoA dehydrogenase level | 1 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0003287 | HP:0008265 | Mitochondrial lysine transport defect | 1 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0003287 | HP:0200125 | Mitochondrial respiratory chain defects | 1 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0003287 | HP:0030059 | Mitochondrial depletion | 1 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0003287 | HP:0008306 | Abnormal iron deposition in mitochondria | 1 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0003287 | HP:0003647 | Electron transfer flavoprotein-ubiquinone oxidoreductase defect | 1 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0003287 | HP:0003288 | Mitochondrial propionyl-CoA carboxylase defect | 1 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0003287 | HP:0003514 | Deficiency or absence of cytochrome b(-245) | 1 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0003287 | HP:0003232 | Mitochondrial malic enzyme reduced | 1 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0003287 | HP:0003232 | Mitochondrial malic enzyme reduced | 1 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0003287 | HP:0003514 | Deficiency or absence of cytochrome b(-245) | 1 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0003287 | HP:0008265 | Mitochondrial lysine transport defect | 1 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0003287 | HP:0100950 | Decreased 3-hydroxyacyl-CoA dehydrogenase level | 1 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0003287 | HP:0030059 | Mitochondrial depletion | 1 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0003287 | HP:0200125 | Mitochondrial respiratory chain defects | 1 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0003287 | HP:0003647 | Electron transfer flavoprotein-ubiquinone oxidoreductase defect | 1 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0003287 | HP:0003288 | Mitochondrial propionyl-CoA carboxylase defect | 1 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0003287 | HP:0008306 | Abnormal iron deposition in mitochondria | 1 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0003287 | HP:0003647 | Electron transfer flavoprotein-ubiquinone oxidoreductase defect | 1 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0003287 | HP:0003288 | Mitochondrial propionyl-CoA carboxylase defect | 1 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0003287 | HP:0008306 | Abnormal iron deposition in mitochondria | 1 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0003287 | HP:0003514 | Deficiency or absence of cytochrome b(-245) | 1 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0003287 | HP:0003232 | Mitochondrial malic enzyme reduced | 1 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0003287 | HP:0008265 | Mitochondrial lysine transport defect | 1 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0003287 | HP:0100950 | Decreased 3-hydroxyacyl-CoA dehydrogenase level | 1 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0003287 | HP:0030059 | Mitochondrial depletion | 1 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0003287 | HP:0200125 | Mitochondrial respiratory chain defects | 1 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0003287 | HP:0030059 | Mitochondrial depletion | 1 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0003287 | HP:0200125 | Mitochondrial respiratory chain defects | 1 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0003287 | HP:0008306 | Abnormal iron deposition in mitochondria | 1 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0003287 | HP:0003647 | Electron transfer flavoprotein-ubiquinone oxidoreductase defect | 1 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0003287 | HP:0003288 | Mitochondrial propionyl-CoA carboxylase defect | 1 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0003287 | HP:0003514 | Deficiency or absence of cytochrome b(-245) | 1 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0003287 | HP:0003232 | Mitochondrial malic enzyme reduced | 1 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0003287 | HP:0100950 | Decreased 3-hydroxyacyl-CoA dehydrogenase level | 1 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0003287 | HP:0008265 | Mitochondrial lysine transport defect | 1 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0003287 | HP:0100950 | Decreased 3-hydroxyacyl-CoA dehydrogenase level | 1 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0003287 | HP:0008265 | Mitochondrial lysine transport defect | 1 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0003287 | HP:0030059 | Mitochondrial depletion | 1 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0003287 | HP:0200125 | Mitochondrial respiratory chain defects | 1 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0003287 | HP:0008306 | Abnormal iron deposition in mitochondria | 1 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0003287 | HP:0003647 | Electron transfer flavoprotein-ubiquinone oxidoreductase defect | 1 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0003287 | HP:0003288 | Mitochondrial propionyl-CoA carboxylase defect | 1 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0003287 | HP:0003514 | Deficiency or absence of cytochrome b(-245) | 1 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0003287 | HP:0003232 | Mitochondrial malic enzyme reduced | 1 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0003287 | HP:0040015 | Increased activity of mitochondrial respiratory chain | 2 | AK2 CL E G H | 204 | 33355 | | | | ORPHA | 1 | | 178 | 362 | 103020 |
HP:0003287 | HP:0011936 | Decreased plasma total carnitine | 2 | AK2 CL E G H | 204 | 33355 | | | | ORPHA | 1 | | 178 | 362 | 103020 |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | AK2 CL E G H | 204 | 33355 | | | | ORPHA | 1 | | 178 | 362 | 103020 |
HP:0003287 | HP:0008315 | Decreased plasma free carnitine | 2 | AK2 CL E G H | 204 | 33355 | | | | ORPHA | 1 | | 178 | 362 | 103020 |
HP:0003287 | HP:0040015 | Increased activity of mitochondrial respiratory chain | 2 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 1 | | 995 | 2976 | 126375 |
HP:0003287 | HP:0011936 | Decreased plasma total carnitine | 2 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 1 | | 995 | 2976 | 126375 |
HP:0003287 | HP:0008315 | Decreased plasma free carnitine | 2 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 1 | | 995 | 2976 | 126375 |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 1 | | 995 | 2976 | 126375 |
HP:0003287 | HP:0040015 | Increased activity of mitochondrial respiratory chain | 2 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 178 | 27302 | 615316 |
HP:0003287 | HP:0011936 | Decreased plasma total carnitine | 2 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 178 | 27302 | 615316 |
HP:0003287 | HP:0008315 | Decreased plasma free carnitine | 2 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 178 | 27302 | 615316 |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 178 | 27302 | 615316 |
HP:0003287 | HP:0008315 | Decreased plasma free carnitine | 2 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0003287 | HP:0040015 | Increased activity of mitochondrial respiratory chain | 2 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0003287 | HP:0011936 | Decreased plasma total carnitine | 2 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0003287 | HP:0011936 | Decreased plasma total carnitine | 2 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0003287 | HP:0008315 | Decreased plasma free carnitine | 2 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0003287 | HP:0040015 | Increased activity of mitochondrial respiratory chain | 2 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0003287 | HP:0040015 | Increased activity of mitochondrial respiratory chain | 2 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0003287 | HP:0011936 | Decreased plasma total carnitine | 2 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0003287 | HP:0008315 | Decreased plasma free carnitine | 2 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0003287 | HP:0040015 | Increased activity of mitochondrial respiratory chain | 2 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0003287 | HP:0011936 | Decreased plasma total carnitine | 2 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0003287 | HP:0008315 | Decreased plasma free carnitine | 2 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0003287 | HP:0008315 | Decreased plasma free carnitine | 2 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0003287 | HP:0040015 | Increased activity of mitochondrial respiratory chain | 2 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0003287 | HP:0011936 | Decreased plasma total carnitine | 2 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0003287 | HP:0011936 | Decreased plasma total carnitine | 2 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0003287 | HP:0008315 | Decreased plasma free carnitine | 2 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0003287 | HP:0040015 | Increased activity of mitochondrial respiratory chain | 2 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0003287 | HP:0040015 | Increased activity of mitochondrial respiratory chain | 2 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0003287 | HP:0011936 | Decreased plasma total carnitine | 2 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0003287 | HP:0008315 | Decreased plasma free carnitine | 2 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0003287 | HP:0040015 | Increased activity of mitochondrial respiratory chain | 2 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0003287 | HP:0011936 | Decreased plasma total carnitine | 2 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0003287 | HP:0008315 | Decreased plasma free carnitine | 2 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0003287 | HP:0008315 | Decreased plasma free carnitine | 2 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0003287 | HP:0040015 | Increased activity of mitochondrial respiratory chain | 2 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0003287 | HP:0011936 | Decreased plasma total carnitine | 2 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0003287 | HP:0011936 | Decreased plasma total carnitine | 2 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0003287 | HP:0008315 | Decreased plasma free carnitine | 2 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0003287 | HP:0040015 | Increased activity of mitochondrial respiratory chain | 2 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0003287 | HP:0040015 | Increased activity of mitochondrial respiratory chain | 2 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0003287 | HP:0011936 | Decreased plasma total carnitine | 2 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0003287 | HP:0008315 | Decreased plasma free carnitine | 2 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0003287 | HP:0040015 | Increased activity of mitochondrial respiratory chain | 2 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0003287 | HP:0011936 | Decreased plasma total carnitine | 2 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0003287 | HP:0008315 | Decreased plasma free carnitine | 2 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0003287 | HP:0008315 | Decreased plasma free carnitine | 2 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0003287 | HP:0040015 | Increased activity of mitochondrial respiratory chain | 2 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0003287 | HP:0011936 | Decreased plasma total carnitine | 2 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0003287 | HP:0011936 | Decreased plasma total carnitine | 2 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0003287 | HP:0008315 | Decreased plasma free carnitine | 2 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0003287 | HP:0040015 | Increased activity of mitochondrial respiratory chain | 2 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0003287 | HP:0011923 | Decreased activity of mitochondrial complex I | 3 | AK2 CL E G H | 204 | 33355 | | | | ORPHA | 1 | | 178 | 362 | 103020 |
HP:0003287 | HP:0011925 | Decreased activity of mitochondrial ATP synthase complex | 3 | AK2 CL E G H | 204 | 33355 | | | | ORPHA | 1 | | 178 | 362 | 103020 |
HP:0003287 | HP:0008347 | Decreased activity of mitochondrial complex IV | 3 | AK2 CL E G H | 204 | 33355 | | | | ORPHA | 1 | | 178 | 362 | 103020 |
HP:0003287 | HP:0011924 | Decreased activity of mitochondrial complex III | 3 | AK2 CL E G H | 204 | 33355 | | | | ORPHA | 1 | | 178 | 362 | 103020 |
HP:0003287 | HP:0008314 | Decreased activity of mitochondrial complex II | 3 | AK2 CL E G H | 204 | 33355 | | | | ORPHA | 1 | | 178 | 362 | 103020 |
HP:0003287 | HP:0008314 | Decreased activity of mitochondrial complex II | 3 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 1 | | 995 | 2976 | 126375 |
HP:0003287 | HP:0011923 | Decreased activity of mitochondrial complex I | 3 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 1 | | 995 | 2976 | 126375 |
HP:0003287 | HP:0011925 | Decreased activity of mitochondrial ATP synthase complex | 3 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 1 | | 995 | 2976 | 126375 |
HP:0003287 | HP:0008347 | Decreased activity of mitochondrial complex IV | 3 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 1 | | 995 | 2976 | 126375 |
HP:0003287 | HP:0011924 | Decreased activity of mitochondrial complex III | 3 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 1 | | 995 | 2976 | 126375 |
HP:0003287 | HP:0008314 | Decreased activity of mitochondrial complex II | 3 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 178 | 27302 | 615316 |
HP:0003287 | HP:0011923 | Decreased activity of mitochondrial complex I | 3 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 178 | 27302 | 615316 |
HP:0003287 | HP:0011925 | Decreased activity of mitochondrial ATP synthase complex | 3 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 178 | 27302 | 615316 |
HP:0003287 | HP:0008347 | Decreased activity of mitochondrial complex IV | 3 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 178 | 27302 | 615316 |
HP:0003287 | HP:0011924 | Decreased activity of mitochondrial complex III | 3 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 178 | 27302 | 615316 |
HP:0003287 | HP:0011924 | Decreased activity of mitochondrial complex III | 3 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0003287 | HP:0008314 | Decreased activity of mitochondrial complex II | 3 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0003287 | HP:0011923 | Decreased activity of mitochondrial complex I | 3 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0003287 | HP:0008347 | Decreased activity of mitochondrial complex IV | 3 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0003287 | HP:0011925 | Decreased activity of mitochondrial ATP synthase complex | 3 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0003287 | HP:0011925 | Decreased activity of mitochondrial ATP synthase complex | 3 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0003287 | HP:0008347 | Decreased activity of mitochondrial complex IV | 3 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0003287 | HP:0011924 | Decreased activity of mitochondrial complex III | 3 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0003287 | HP:0008314 | Decreased activity of mitochondrial complex II | 3 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0003287 | HP:0011923 | Decreased activity of mitochondrial complex I | 3 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0003287 | HP:0011923 | Decreased activity of mitochondrial complex I | 3 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0003287 | HP:0011925 | Decreased activity of mitochondrial ATP synthase complex | 3 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0003287 | HP:0008347 | Decreased activity of mitochondrial complex IV | 3 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0003287 | HP:0011924 | Decreased activity of mitochondrial complex III | 3 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0003287 | HP:0008314 | Decreased activity of mitochondrial complex II | 3 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0003287 | HP:0008314 | Decreased activity of mitochondrial complex II | 3 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0003287 | HP:0011923 | Decreased activity of mitochondrial complex I | 3 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0003287 | HP:0011925 | Decreased activity of mitochondrial ATP synthase complex | 3 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0003287 | HP:0008347 | Decreased activity of mitochondrial complex IV | 3 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0003287 | HP:0011924 | Decreased activity of mitochondrial complex III | 3 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0003287 | HP:0011924 | Decreased activity of mitochondrial complex III | 3 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0003287 | HP:0008314 | Decreased activity of mitochondrial complex II | 3 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0003287 | HP:0011923 | Decreased activity of mitochondrial complex I | 3 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0003287 | HP:0008347 | Decreased activity of mitochondrial complex IV | 3 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0003287 | HP:0011925 | Decreased activity of mitochondrial ATP synthase complex | 3 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0003287 | HP:0011925 | Decreased activity of mitochondrial ATP synthase complex | 3 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0003287 | HP:0008347 | Decreased activity of mitochondrial complex IV | 3 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0003287 | HP:0011924 | Decreased activity of mitochondrial complex III | 3 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0003287 | HP:0008314 | Decreased activity of mitochondrial complex II | 3 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0003287 | HP:0011923 | Decreased activity of mitochondrial complex I | 3 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0003287 | HP:0011923 | Decreased activity of mitochondrial complex I | 3 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0003287 | HP:0011925 | Decreased activity of mitochondrial ATP synthase complex | 3 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0003287 | HP:0008347 | Decreased activity of mitochondrial complex IV | 3 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0003287 | HP:0011924 | Decreased activity of mitochondrial complex III | 3 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0003287 | HP:0008314 | Decreased activity of mitochondrial complex II | 3 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0003287 | HP:0008314 | Decreased activity of mitochondrial complex II | 3 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0003287 | HP:0011923 | Decreased activity of mitochondrial complex I | 3 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0003287 | HP:0011925 | Decreased activity of mitochondrial ATP synthase complex | 3 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0003287 | HP:0008347 | Decreased activity of mitochondrial complex IV | 3 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0003287 | HP:0011924 | Decreased activity of mitochondrial complex III | 3 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0003287 | HP:0011924 | Decreased activity of mitochondrial complex III | 3 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0003287 | HP:0008314 | Decreased activity of mitochondrial complex II | 3 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0003287 | HP:0011923 | Decreased activity of mitochondrial complex I | 3 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0003287 | HP:0008347 | Decreased activity of mitochondrial complex IV | 3 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0003287 | HP:0011925 | Decreased activity of mitochondrial ATP synthase complex | 3 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0003287 | HP:0011925 | Decreased activity of mitochondrial ATP synthase complex | 3 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0003287 | HP:0008347 | Decreased activity of mitochondrial complex IV | 3 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0003287 | HP:0011924 | Decreased activity of mitochondrial complex III | 3 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0003287 | HP:0008314 | Decreased activity of mitochondrial complex II | 3 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0003287 | HP:0011923 | Decreased activity of mitochondrial complex I | 3 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0003287 | HP:0011923 | Decreased activity of mitochondrial complex I | 3 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0003287 | HP:0011925 | Decreased activity of mitochondrial ATP synthase complex | 3 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0003287 | HP:0008347 | Decreased activity of mitochondrial complex IV | 3 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0003287 | HP:0011924 | Decreased activity of mitochondrial complex III | 3 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0003287 | HP:0008314 | Decreased activity of mitochondrial complex II | 3 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0003287 | HP:0008314 | Decreased activity of mitochondrial complex II | 3 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0003287 | HP:0011923 | Decreased activity of mitochondrial complex I | 3 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0003287 | HP:0011925 | Decreased activity of mitochondrial ATP synthase complex | 3 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0003287 | HP:0008347 | Decreased activity of mitochondrial complex IV | 3 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0003287 | HP:0011924 | Decreased activity of mitochondrial complex III | 3 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0003287 | HP:0011924 | Decreased activity of mitochondrial complex III | 3 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0003287 | HP:0008314 | Decreased activity of mitochondrial complex II | 3 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0003287 | HP:0011923 | Decreased activity of mitochondrial complex I | 3 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0003287 | HP:0011925 | Decreased activity of mitochondrial ATP synthase complex | 3 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0003287 | HP:0008347 | Decreased activity of mitochondrial complex IV | 3 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0003287 | HP:0008347 | Decreased activity of mitochondrial complex IV | 3 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0003287 | HP:0011925 | Decreased activity of mitochondrial ATP synthase complex | 3 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0003287 | HP:0011924 | Decreased activity of mitochondrial complex III | 3 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0003287 | HP:0008314 | Decreased activity of mitochondrial complex II | 3 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0003287 | HP:0011923 | Decreased activity of mitochondrial complex I | 3 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HPO disease - gene - phenotype less frequent non-typical associations: |