Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | AARS2 CL E G H | 57505 | 614096 | Combined oxidative phosphorylation deficiency 8 | 614096 | C3279793 | OMIM | 1 | | 543 | 21022 | 612035 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 771 | 21497 | 611103 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | ACAD9 CL E G H | 28976 | 611126 | Acyl-CoA dehydrogenase family, member 9, deficiency of | 611126 | C1970173 | OMIM | 1 | | 771 | 21497 | 611103 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | AGK CL E G H | 55750 | 1369 | | | | ORPHA | 1 | | 347 | 21869 | 610345 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | ALDOB CL E G H | 229 | 229600 | Hereditary fructosuria | 229600 | C0016751 | OMIM | 1 | | 438 | 417 | 612724 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | APOPT1 CL E G H | 84334 | 436271 | | | | ORPHA | 1 | | 197 | 20492 | 616003 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | APOPT1 CL E G H | 84334 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 197 | 20492 | 616003 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | ATP5F1D CL E G H | 513 | 618120 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 | 618120 | CN253835 | OMIM | 1 | | 122 | 837 | 603150 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | ATP5F1E CL E G H | 514 | 614053 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3 | 614053 | C3279708 | OMIM | 1 | | 44 | 838 | 606153 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | ATPAF2 CL E G H | 91647 | 604273 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 | 604273 | C2700431 | OMIM | 1 | | 281 | 18802 | 608918 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | BCKDHA CL E G H | 593 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 596 | 986 | 608348 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | BCKDHB CL E G H | 594 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 647 | 987 | 248611 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | BCS1L CL E G H | 617 | 53693 | | | | ORPHA | 1 | | 413 | 1020 | 603647 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | BCS1L CL E G H | 617 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | BOLA3 CL E G H | 388962 | 614299 | Multiple mitochondrial dysfunctions syndrome 2 | 614299 | C3280378 | OMIM | 1 | | 102 | 24415 | 613183 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | CA5A CL E G H | 763 | 615751 | Carbonic anhydrase VA deficiency, hyperammonemia due to | 615751 | C3810404 | OMIM | 1 | | 223 | 1377 | 114761 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | CAMKMT CL E G H | 79823 | 163693 | | | | ORPHA | 1 | | 53 | 26276 | 609559 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | COA6 CL E G H | 388753 | 616501 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 | 616501 | C4225304 | OMIM | 1 | | 100 | 18025 | 614772 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | COA7 CL E G H | 65260 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 58 | 25716 | 615623 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 346 | 25223 | 609825 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | COQ8A CL E G H | 56997 | 612016 | Coenzyme Q10 deficiency, primary, 4 | 612016 | C2677589 | OMIM | 1 | | 699 | 16812 | 606980 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | COQ9 CL E G H | 57017 | 614654 | Coenzyme Q10 deficiency, primary, 5 | 614654 | C3553374 | OMIM | 1 | | 276 | 25302 | 612837 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | COX10 CL E G H | 1352 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 356 | 2260 | 602125 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | COX10 CL E G H | 1352 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 356 | 2260 | 602125 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | COX14 CL E G H | 84987 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 38 | 28216 | 614478 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | COX15 CL E G H | 1355 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | COX20 CL E G H | 116228 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 206 | 26970 | 614698 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | COX6B1 CL E G H | 1340 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 68 | 2280 | 124089 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | COX8A CL E G H | 1351 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 32 | 2294 | 123870 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | CYC1 CL E G H | 1537 | 615453 | Mitochondrial complex III deficiency, nuclear type 6 | 615453 | C3809553 | OMIM | 1 | | 161 | 2579 | 123980 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | DBT CL E G H | 1629 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 683 | 2698 | 248610 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 239 | 2858 | 601465 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | DLAT CL E G H | 1737 | 245348 | Pyruvate dehydrogenase E2 deficiency | 245348 | C1855565 | OMIM | 1 | | 303 | 2896 | 608770 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | DLD CL E G H | 1738 | 2394 | Frontonasal dysplasia Klippel Feil syndrome | | | ORPHA | 1 | | 520 | 2898 | 238331 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 1 | | 520 | 2898 | 238331 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | DNM1L CL E G H | 10059 | 614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | 614388 | C3280660 | OMIM | 1 | | 591 | 2973 | 603850 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | EARS2 CL E G H | 124454 | 614924 | Combined oxidative phosphorylation deficiency 12 | 614924 | C3554079 | OMIM | 1 | | 336 | 29419 | 612799 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | ELAC2 CL E G H | 60528 | 615440 | Combined oxidative phosphorylation deficiency 17 | 615440 | C3809526 | OMIM | 1 | | 905 | 14198 | 605367 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | ETHE1 CL E G H | 23474 | 602473 | Ethylmalonic encephalopathy | 602473 | C1865349 | OMIM | 1 | | 338 | 23287 | 608451 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 564 | 21062 | 611592 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | FASTKD2 CL E G H | 22868 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 401 | 29160 | 612322 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | FBXL4 CL E G H | 26235 | 615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 615471 | C3809592 | OMIM | 1 | | 566 | 13601 | 605654 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | FH CL E G H | 2271 | 606812 | Fumarase deficiency | 606812 | C0342770 | OMIM | 1 | | 1798 | 3700 | 136850 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | FOXRED1 CL E G H | 55572 | 618241 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | 618241 | | OMIM | 1 | | 323 | 26927 | 613622 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | G6PC CL E G H | 2538 | 232200 | Glycogen storage disease type 1A | 232200 | C2919796 | OMIM | 1 | | | 4056 | 613742 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | GFER CL E G H | 2671 | 330054 | | | | ORPHA | 1 | | 200 | 4236 | 600924 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | GTPBP3 CL E G H | 84705 | 616198 | Combined oxidative phosphorylation deficiency 23 | 616198 | C4015447 | OMIM | 1 | | 466 | 14880 | 608536 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | HADHA CL E G H | 3030 | 609015 | Mitochondrial trifunctional protein deficiency | 609015 | C0342786 | OMIM | 1 | | 792 | 4801 | 600890 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | HADHB CL E G H | 3032 | 609015 | Mitochondrial trifunctional protein deficiency | 609015 | C0342786 | OMIM | 1 | | 367 | 4803 | 143450 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | HSD17B10 CL E G H | 3028 | 300438 | 2-methyl-3-hydroxybutyric aciduria | 300438 | C3266731 | OMIM | 1 | | 256 | 4800 | 300256 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 271 | 27302 | 615316 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | ISCU CL E G H | 23479 | 255125 | Myopathy with lactic acidosis, hereditary | 255125 | C1850718 | OMIM | 1 | | 160 | 29882 | 611911 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | LARS CL E G H | 51520 | 615438 | Infantile liver failure syndrome 1 | 615438 | C3809522 | OMIM | 1 | | | 6512 | 151350 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | LARS2 CL E G H | 23395 | 617021 | Hydrops, lactic acidosis, and sideroblastic anemia | 617021 | C4310761 | OMIM | 1 | | 416 | 17095 | 604544 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 410 | 16429 | 607031 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | LIPT1 CL E G H | 51601 | 616299 | Lipoyltransferase 1 deficiency | 616299 | C4225379 | OMIM | 1 | | 124 | 29569 | 610284 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | LRPPRC CL E G H | 10128 | 220111 | Leigh syndrome, French Canadian type | 220111 | C1857355 | OMIM | 1 | | 1479 | 15714 | 607544 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | LYRM4 CL E G H | 57128 | 615595 | Combined oxidative phosphorylation deficiency 19 | 615595 | C3810055 | OMIM | 1 | | 167 | 21365 | 613311 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | LYRM7 CL E G H | 90624 | 615838 | Mitochondrial complex III deficiency, nuclear type 8 | 615838 | C4014440 | OMIM | 1 | | 92 | 28072 | 615831 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | MIPEP CL E G H | 4285 | 617228 | Combined oxidative phosphorylation deficiency 31 | 617228 | C4310661 | OMIM | 1 | | 264 | 7104 | 602241 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | MLYCD CL E G H | 23417 | 248360 | Deficiency of malonyl-CoA decarboxylase | 248360 | C0342793 | OMIM | 1 | | 482 | 7150 | 606761 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | MPC1 CL E G H | 51660 | 614741 | Mitochondrial pyruvate carrier deficiency | 614741 | C3553607 | OMIM | 1 | | 98 | 21606 | 614738 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | MPV17 CL E G H | 4358 | 256810 | Navajo neurohepatopathy | 256810 | C1850406 | OMIM | 1 | | 264 | 7224 | 137960 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | MRPS16 CL E G H | 51021 | 610498 | Combined oxidative phosphorylation deficiency 2 | 610498 | C1864843 | OMIM | 1 | | 96 | 14048 | 609204 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | MRPS7 CL E G H | 51081 | 617872 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 | 617872 | CN807947 | OMIM | 1 | | 93 | 14499 | 611974 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | MT-CO1 CL E G H | 4512 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7419 | 516030 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | MT-CO2 CL E G H | 4513 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7421 | 516040 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | MT-CO3 CL E G H | 4514 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7422 | 516050 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | MT-CYB CL E G H | 4519 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7427 | 516020 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | MT-ND1 CL E G H | 4535 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7455 | 516000 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | MT-ND5 CL E G H | 4540 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7461 | 516005 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | MT-ND6 CL E G H | 4541 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7462 | 516006 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | MT-TC CL E G H | 4511 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7477 | 590020 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | MT-TF CL E G H | 4558 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7481 | 590070 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | MT-TK CL E G H | 4566 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7489 | 590060 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | MT-TL1 CL E G H | 4567 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7490 | 590050 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | MT-TN CL E G H | 4570 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7493 | 590010 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | MT-TQ CL E G H | 4572 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7495 | 590030 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | MT-TS1 CL E G H | 4574 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7497 | 590080 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | MT-TS1 CL E G H | 4574 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7497 | 590080 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | MT-TS2 CL E G H | 4575 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7498 | 590085 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | MT-TT CL E G H | 4576 | 551000 | Lethal infantile mitochondrial myopathy | 551000 | C1838876 | OMIM | 1 | | | 7499 | 590090 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | MT-TV CL E G H | 4577 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7500 | 590105 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | MT-TW CL E G H | 4578 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7501 | 590095 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | MTO1 CL E G H | 25821 | 614702 | Combined oxidative phosphorylation deficiency 10 | 614702 | C3553529 | OMIM | 1 | | 638 | 19261 | 614667 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | NAXE CL E G H | 128240 | 617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy | 617186 | C4310675 | OMIM | 1 | | 146 | 18453 | 608862 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | NDUFS4 CL E G H | 4724 | 252010 | Mitochondrial complex I deficiency | 252010 | C1838979 | OMIM | 1 | | 139 | 7711 | 602694 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | NFU1 CL E G H | 27247 | 605711 | Multiple mitochondrial dysfunctions syndrome 1 | 605711 | C3276432 | OMIM | 1 | | 169 | 16287 | 608100 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | PC CL E G H | 5091 | 266150 | Pyruvate carboxylase deficiency | 266150 | C0034341 | OMIM | 1 | | 1101 | 8636 | 608786 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | PCCA CL E G H | 5095 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 1189 | 8653 | 232000 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | PCCB CL E G H | 5096 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 971 | 8654 | 232050 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | PCK1 CL E G H | 5105 | 261680 | Phosphoenolpyruvate carboxykinase deficiency, cytosolic | 261680 | C1849814 | OMIM | 1 | | 235 | 8724 | 614168 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | PDHB CL E G H | 5162 | 614111 | Pyruvate dehydrogenase E1-beta deficiency | 614111 | C3279841 | OMIM | 1 | | 281 | 8808 | 179060 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | PDHX CL E G H | 8050 | 245349 | Pyruvate dehydrogenase E3-binding protein deficiency | 245349 | C1855553 | OMIM | 1 | | 372 | 21350 | 608769 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | PDP1 CL E G H | 54704 | 608782 | Pyruvate dehydrogenase phosphatase deficiency | 608782 | C1837429 | OMIM | 1 | | 185 | 9279 | 605993 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | PET100 CL E G H | 100131801 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 76 | 40038 | 614770 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | PHKG2 CL E G H | 5261 | 613027 | Glycogen storage disease IXc | 613027 | C2751643 | OMIM | 1 | | 216 | 8931 | 172471 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | PNPLA8 CL E G H | 50640 | 251950 | Mitochondrial myopathy with lactic acidosis | 251950 | C1855033 | OMIM | 1 | | 271 | 28900 | 612123 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | POLG CL E G H | 5428 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | PPM1B CL E G H | 5495 | 163693 | | | | ORPHA | 1 | | 45 | 9276 | 603770 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | PREPL CL E G H | 9581 | 163693 | | | | ORPHA | 1 | | 708 | 30228 | 609557 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | PUS1 CL E G H | 80324 | 2598 | Mitochondrial myopathy and sideroblastic anemia | | CN220387 | ORPHA | 1 | | 478 | 15508 | 608109 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | PUS1 CL E G H | 80324 | 600462 | Myopathy, lactic acidosis, and sideroblastic anemia 1 | 600462 | C1838103 | OMIM | 1 | | 478 | 15508 | 608109 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | RMND1 CL E G H | 55005 | 614922 | Combined oxidative phosphorylation deficiency 11 | 614922 | C3554067 | OMIM | 1 | | 262 | 21176 | 614917 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | RRM2B CL E G H | 50484 | 612075 | Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy | 612075 | C2749861 | OMIM | 1 | | 354 | 17296 | 604712 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 354 | 17296 | 604712 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | SCO1 CL E G H | 6341 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 212 | 10603 | 603644 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | SCO2 CL E G H | 9997 | 604377 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency | 604377 | C1858424 | OMIM | 1 | | 701 | 10604 | 604272 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | SDHA CL E G H | 6389 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 2503 | 10680 | 600857 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | SERAC1 CL E G H | 84947 | 614739 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 614739 | C3553597 | OMIM | 1 | | 400 | 21061 | 614725 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | SFXN4 CL E G H | 119559 | 615578 | Combined oxidative phosphorylation deficiency 18 | 615578 | C3810001 | OMIM | 1 | | 179 | 16088 | 615564 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | SLC25A19 CL E G H | 60386 | 607196 | Amish lethal microcephaly | 607196 | C1846648 | OMIM | 1 | | 182 | 14409 | 606521 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 176 | 10989 | 600370 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | SLC25A3 CL E G H | 5250 | 610773 | Mitochondrial phosphate carrier deficiency | 610773 | C1835845 | OMIM | 1 | | 176 | 10989 | 600370 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | SLC25A4 CL E G H | 291 | 1369 | | | | ORPHA | 1 | | 333 | 10990 | 103220 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | SLC25A4 CL E G H | 291 | 617184 | Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant | 617184 | C4310676 | OMIM | 1 | | 333 | 10990 | 103220 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | SLC25A4 CL E G H | 291 | 615418 | Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive | 615418 | C3809443 | OMIM | 1 | | 333 | 10990 | 103220 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | SLC37A4 CL E G H | 2542 | 232220 | Glucose-6-phosphate transport defect | 232220 | C0268146 | OMIM | 1 | | 903 | 4061 | 602671 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | SLC37A4 CL E G H | 2542 | 232240 | Phosphate transport defect | 232240 | C0342749 | OMIM | 1 | | 903 | 4061 | 602671 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | SLC3A1 CL E G H | 6519 | 163693 | | | | ORPHA | 1 | | 429 | 11025 | 104614 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | SUCLG1 CL E G H | 8802 | 245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) | 245400 | C3151476 | OMIM | 1 | | 303 | 11449 | 611224 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | SURF1 CL E G H | 6834 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 532 | 11474 | 185620 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | TACO1 CL E G H | 51204 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 117 | 24316 | 612958 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | TANGO2 CL E G H | 128989 | 616878 | TANGO2-Related Metabolic Encephalopathy and Arrhythmias | 616878 | C4225171 | OMIM | 1 | | 715 | 25439 | 616830 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | TMEM70 CL E G H | 54968 | 614052 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 | 614052 | C3279699 | OMIM | 1 | | 325 | 26050 | 612418 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | TPK1 CL E G H | 27010 | 614458 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | 614458 | C3280866 | OMIM | 1 | | 318 | 17358 | 606370 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | TRMT10C CL E G H | 54931 | 616974 | Combined oxidative phosphorylation deficiency 30 | 616974 | C4310773 | OMIM | 1 | | 54 | 26022 | 615423 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | TRMU CL E G H | 55687 | 613070 | Liver failure acute infantile | 613070 | C3278664 | OMIM | 1 | | 623 | 25481 | 610230 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | TSFM CL E G H | 10102 | 610505 | Combined oxidative phosphorylation deficiency 3 | 610505 | C1864840 | OMIM | 1 | | 434 | 12367 | 604723 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | TUFM CL E G H | 7284 | 610678 | Combined oxidative phosphorylation deficiency 4 | 610678 | C1857682 | OMIM | 1 | | 323 | 12420 | 602389 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | TYMP CL E G H | 1890 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 895 | 3148 | 131222 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 895 | 3148 | 131222 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | UQCC3 CL E G H | 790955 | 616111 | Mitochondrial complex III deficiency, nuclear type 9 | 616111 | C4015253 | OMIM | 1 | | 39 | 34399 | 616097 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | USP18 CL E G H | 11274 | 617397 | Pseudo-torch syndrome 2 | 617397 | C4479376 | OMIM | 1 | | 165 | 12616 | 607057 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | YARS2 CL E G H | 51067 | 2598 | Mitochondrial myopathy and sideroblastic anemia | | CN220387 | ORPHA | 1 | | 274 | 24249 | 610957 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | YARS2 CL E G H | 51067 | 613561 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | 613561 | C3150802 | OMIM | 1 | | 274 | 24249 | 610957 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | AARS2 CL E G H | 57505 | 614096 | Combined oxidative phosphorylation deficiency 8 | 614096 | C3279793 | OMIM | 1 | | 543 | 21022 | 612035 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | AARS2 CL E G H | 57505 | 614096 | Combined oxidative phosphorylation deficiency 8 | 614096 | C3279793 | OMIM | 1 | | 543 | 21022 | 612035 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | AARS2 CL E G H | 57505 | 614096 | Combined oxidative phosphorylation deficiency 8 | 614096 | C3279793 | OMIM | 1 | | 543 | 21022 | 612035 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | AARS2 CL E G H | 57505 | 614096 | Combined oxidative phosphorylation deficiency 8 | 614096 | C3279793 | OMIM | 1 | | 543 | 21022 | 612035 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | AARS2 CL E G H | 57505 | 614096 | Combined oxidative phosphorylation deficiency 8 | 614096 | C3279793 | OMIM | 1 | | 543 | 21022 | 612035 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | AARS2 CL E G H | 57505 | 614096 | Combined oxidative phosphorylation deficiency 8 | 614096 | C3279793 | OMIM | 1 | | 543 | 21022 | 612035 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | AARS2 CL E G H | 57505 | 614096 | Combined oxidative phosphorylation deficiency 8 | 614096 | C3279793 | OMIM | 1 | | 543 | 21022 | 612035 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 771 | 21497 | 611103 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 771 | 21497 | 611103 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 771 | 21497 | 611103 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 771 | 21497 | 611103 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 771 | 21497 | 611103 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 771 | 21497 | 611103 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 771 | 21497 | 611103 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | ACAD9 CL E G H | 28976 | 611126 | Acyl-CoA dehydrogenase family, member 9, deficiency of | 611126 | C1970173 | OMIM | 1 | | 771 | 21497 | 611103 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | ACAD9 CL E G H | 28976 | 611126 | Acyl-CoA dehydrogenase family, member 9, deficiency of | 611126 | C1970173 | OMIM | 1 | | 771 | 21497 | 611103 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | ACAD9 CL E G H | 28976 | 611126 | Acyl-CoA dehydrogenase family, member 9, deficiency of | 611126 | C1970173 | OMIM | 1 | | 771 | 21497 | 611103 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | ACAD9 CL E G H | 28976 | 611126 | Acyl-CoA dehydrogenase family, member 9, deficiency of | 611126 | C1970173 | OMIM | 1 | | 771 | 21497 | 611103 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | ACAD9 CL E G H | 28976 | 611126 | Acyl-CoA dehydrogenase family, member 9, deficiency of | 611126 | C1970173 | OMIM | 1 | | 771 | 21497 | 611103 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | ACAD9 CL E G H | 28976 | 611126 | Acyl-CoA dehydrogenase family, member 9, deficiency of | 611126 | C1970173 | OMIM | 1 | | 771 | 21497 | 611103 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | ACAD9 CL E G H | 28976 | 611126 | Acyl-CoA dehydrogenase family, member 9, deficiency of | 611126 | C1970173 | OMIM | 1 | | 771 | 21497 | 611103 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | AGK CL E G H | 55750 | 1369 | | | | ORPHA | 1 | | 347 | 21869 | 610345 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | AGK CL E G H | 55750 | 1369 | | | | ORPHA | 1 | | 347 | 21869 | 610345 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | AGK CL E G H | 55750 | 1369 | | | | ORPHA | 1 | | 347 | 21869 | 610345 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | AGK CL E G H | 55750 | 1369 | | | | ORPHA | 1 | | 347 | 21869 | 610345 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | AGK CL E G H | 55750 | 1369 | | | | ORPHA | 1 | | 347 | 21869 | 610345 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | AGK CL E G H | 55750 | 1369 | | | | ORPHA | 1 | | 347 | 21869 | 610345 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | AGK CL E G H | 55750 | 1369 | | | | ORPHA | 1 | | 347 | 21869 | 610345 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | ALDOB CL E G H | 229 | 229600 | Hereditary fructosuria | 229600 | C0016751 | OMIM | 1 | | 438 | 417 | 612724 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | ALDOB CL E G H | 229 | 229600 | Hereditary fructosuria | 229600 | C0016751 | OMIM | 1 | | 438 | 417 | 612724 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | ALDOB CL E G H | 229 | 229600 | Hereditary fructosuria | 229600 | C0016751 | OMIM | 1 | | 438 | 417 | 612724 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | ALDOB CL E G H | 229 | 229600 | Hereditary fructosuria | 229600 | C0016751 | OMIM | 1 | | 438 | 417 | 612724 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | ALDOB CL E G H | 229 | 229600 | Hereditary fructosuria | 229600 | C0016751 | OMIM | 1 | | 438 | 417 | 612724 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | ALDOB CL E G H | 229 | 229600 | Hereditary fructosuria | 229600 | C0016751 | OMIM | 1 | | 438 | 417 | 612724 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | ALDOB CL E G H | 229 | 229600 | Hereditary fructosuria | 229600 | C0016751 | OMIM | 1 | | 438 | 417 | 612724 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | APOPT1 CL E G H | 84334 | 436271 | | | | ORPHA | 1 | | 197 | 20492 | 616003 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | APOPT1 CL E G H | 84334 | 436271 | | | | ORPHA | 1 | | 197 | 20492 | 616003 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | APOPT1 CL E G H | 84334 | 436271 | | | | ORPHA | 1 | | 197 | 20492 | 616003 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | APOPT1 CL E G H | 84334 | 436271 | | | | ORPHA | 1 | | 197 | 20492 | 616003 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | APOPT1 CL E G H | 84334 | 436271 | | | | ORPHA | 1 | | 197 | 20492 | 616003 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | APOPT1 CL E G H | 84334 | 436271 | | | | ORPHA | 1 | | 197 | 20492 | 616003 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | APOPT1 CL E G H | 84334 | 436271 | | | | ORPHA | 1 | | 197 | 20492 | 616003 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | APOPT1 CL E G H | 84334 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 197 | 20492 | 616003 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | APOPT1 CL E G H | 84334 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 197 | 20492 | 616003 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | APOPT1 CL E G H | 84334 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 197 | 20492 | 616003 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | APOPT1 CL E G H | 84334 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 197 | 20492 | 616003 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | APOPT1 CL E G H | 84334 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 197 | 20492 | 616003 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | APOPT1 CL E G H | 84334 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 197 | 20492 | 616003 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | APOPT1 CL E G H | 84334 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 197 | 20492 | 616003 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | ATP5F1D CL E G H | 513 | 618120 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 | 618120 | CN253835 | OMIM | 1 | | 122 | 837 | 603150 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | ATP5F1D CL E G H | 513 | 618120 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 | 618120 | CN253835 | OMIM | 1 | | 122 | 837 | 603150 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | ATP5F1D CL E G H | 513 | 618120 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 | 618120 | CN253835 | OMIM | 1 | | 122 | 837 | 603150 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | ATP5F1D CL E G H | 513 | 618120 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 | 618120 | CN253835 | OMIM | 1 | | 122 | 837 | 603150 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | ATP5F1D CL E G H | 513 | 618120 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 | 618120 | CN253835 | OMIM | 1 | | 122 | 837 | 603150 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | ATP5F1D CL E G H | 513 | 618120 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 | 618120 | CN253835 | OMIM | 1 | | 122 | 837 | 603150 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | ATP5F1D CL E G H | 513 | 618120 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 | 618120 | CN253835 | OMIM | 1 | | 122 | 837 | 603150 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | ATP5F1E CL E G H | 514 | 614053 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3 | 614053 | C3279708 | OMIM | 1 | | 44 | 838 | 606153 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | ATP5F1E CL E G H | 514 | 614053 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3 | 614053 | C3279708 | OMIM | 1 | | 44 | 838 | 606153 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | ATP5F1E CL E G H | 514 | 614053 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3 | 614053 | C3279708 | OMIM | 1 | | 44 | 838 | 606153 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | ATP5F1E CL E G H | 514 | 614053 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3 | 614053 | C3279708 | OMIM | 1 | | 44 | 838 | 606153 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | ATP5F1E CL E G H | 514 | 614053 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3 | 614053 | C3279708 | OMIM | 1 | | 44 | 838 | 606153 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | ATP5F1E CL E G H | 514 | 614053 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3 | 614053 | C3279708 | OMIM | 1 | | 44 | 838 | 606153 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | ATP5F1E CL E G H | 514 | 614053 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3 | 614053 | C3279708 | OMIM | 1 | | 44 | 838 | 606153 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | ATPAF2 CL E G H | 91647 | 604273 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 | 604273 | C2700431 | OMIM | 1 | | 281 | 18802 | 608918 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | ATPAF2 CL E G H | 91647 | 604273 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 | 604273 | C2700431 | OMIM | 1 | | 281 | 18802 | 608918 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | ATPAF2 CL E G H | 91647 | 604273 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 | 604273 | C2700431 | OMIM | 1 | | 281 | 18802 | 608918 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | ATPAF2 CL E G H | 91647 | 604273 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 | 604273 | C2700431 | OMIM | 1 | | 281 | 18802 | 608918 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | ATPAF2 CL E G H | 91647 | 604273 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 | 604273 | C2700431 | OMIM | 1 | | 281 | 18802 | 608918 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | ATPAF2 CL E G H | 91647 | 604273 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 | 604273 | C2700431 | OMIM | 1 | | 281 | 18802 | 608918 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | ATPAF2 CL E G H | 91647 | 604273 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 | 604273 | C2700431 | OMIM | 1 | | 281 | 18802 | 608918 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | BCKDHA CL E G H | 593 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 596 | 986 | 608348 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | BCKDHA CL E G H | 593 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 596 | 986 | 608348 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | BCKDHA CL E G H | 593 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 596 | 986 | 608348 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | BCKDHA CL E G H | 593 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 596 | 986 | 608348 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | BCKDHA CL E G H | 593 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 596 | 986 | 608348 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | BCKDHA CL E G H | 593 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 596 | 986 | 608348 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | BCKDHA CL E G H | 593 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 596 | 986 | 608348 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | BCKDHB CL E G H | 594 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 647 | 987 | 248611 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | BCKDHB CL E G H | 594 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 647 | 987 | 248611 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | BCKDHB CL E G H | 594 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 647 | 987 | 248611 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | BCKDHB CL E G H | 594 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 647 | 987 | 248611 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | BCKDHB CL E G H | 594 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 647 | 987 | 248611 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | BCKDHB CL E G H | 594 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 647 | 987 | 248611 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | BCKDHB CL E G H | 594 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 647 | 987 | 248611 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | BCS1L CL E G H | 617 | 53693 | | | | ORPHA | 1 | | 413 | 1020 | 603647 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | BCS1L CL E G H | 617 | 53693 | | | | ORPHA | 1 | | 413 | 1020 | 603647 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | BCS1L CL E G H | 617 | 53693 | | | | ORPHA | 1 | | 413 | 1020 | 603647 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | BCS1L CL E G H | 617 | 53693 | | | | ORPHA | 1 | | 413 | 1020 | 603647 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | BCS1L CL E G H | 617 | 53693 | | | | ORPHA | 1 | | 413 | 1020 | 603647 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | BCS1L CL E G H | 617 | 53693 | | | | ORPHA | 1 | | 413 | 1020 | 603647 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | BCS1L CL E G H | 617 | 53693 | | | | ORPHA | 1 | | 413 | 1020 | 603647 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | BCS1L CL E G H | 617 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | BCS1L CL E G H | 617 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | BCS1L CL E G H | 617 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | BCS1L CL E G H | 617 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | BCS1L CL E G H | 617 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | BCS1L CL E G H | 617 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | BCS1L CL E G H | 617 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | BOLA3 CL E G H | 388962 | 614299 | Multiple mitochondrial dysfunctions syndrome 2 | 614299 | C3280378 | OMIM | 1 | | 102 | 24415 | 613183 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | BOLA3 CL E G H | 388962 | 614299 | Multiple mitochondrial dysfunctions syndrome 2 | 614299 | C3280378 | OMIM | 1 | | 102 | 24415 | 613183 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | BOLA3 CL E G H | 388962 | 614299 | Multiple mitochondrial dysfunctions syndrome 2 | 614299 | C3280378 | OMIM | 1 | | 102 | 24415 | 613183 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | BOLA3 CL E G H | 388962 | 614299 | Multiple mitochondrial dysfunctions syndrome 2 | 614299 | C3280378 | OMIM | 1 | | 102 | 24415 | 613183 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | BOLA3 CL E G H | 388962 | 614299 | Multiple mitochondrial dysfunctions syndrome 2 | 614299 | C3280378 | OMIM | 1 | | 102 | 24415 | 613183 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | BOLA3 CL E G H | 388962 | 614299 | Multiple mitochondrial dysfunctions syndrome 2 | 614299 | C3280378 | OMIM | 1 | | 102 | 24415 | 613183 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | BOLA3 CL E G H | 388962 | 614299 | Multiple mitochondrial dysfunctions syndrome 2 | 614299 | C3280378 | OMIM | 1 | | 102 | 24415 | 613183 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | CA5A CL E G H | 763 | 615751 | Carbonic anhydrase VA deficiency, hyperammonemia due to | 615751 | C3810404 | OMIM | 1 | | 223 | 1377 | 114761 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | CA5A CL E G H | 763 | 615751 | Carbonic anhydrase VA deficiency, hyperammonemia due to | 615751 | C3810404 | OMIM | 1 | | 223 | 1377 | 114761 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | CA5A CL E G H | 763 | 615751 | Carbonic anhydrase VA deficiency, hyperammonemia due to | 615751 | C3810404 | OMIM | 1 | | 223 | 1377 | 114761 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | CA5A CL E G H | 763 | 615751 | Carbonic anhydrase VA deficiency, hyperammonemia due to | 615751 | C3810404 | OMIM | 1 | | 223 | 1377 | 114761 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | CA5A CL E G H | 763 | 615751 | Carbonic anhydrase VA deficiency, hyperammonemia due to | 615751 | C3810404 | OMIM | 1 | | 223 | 1377 | 114761 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | CA5A CL E G H | 763 | 615751 | Carbonic anhydrase VA deficiency, hyperammonemia due to | 615751 | C3810404 | OMIM | 1 | | 223 | 1377 | 114761 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | CA5A CL E G H | 763 | 615751 | Carbonic anhydrase VA deficiency, hyperammonemia due to | 615751 | C3810404 | OMIM | 1 | | 223 | 1377 | 114761 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | CAMKMT CL E G H | 79823 | 163693 | | | | ORPHA | 1 | | 53 | 26276 | 609559 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | CAMKMT CL E G H | 79823 | 163693 | | | | ORPHA | 1 | | 53 | 26276 | 609559 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | CAMKMT CL E G H | 79823 | 163693 | | | | ORPHA | 1 | | 53 | 26276 | 609559 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | CAMKMT CL E G H | 79823 | 163693 | | | | ORPHA | 1 | | 53 | 26276 | 609559 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | CAMKMT CL E G H | 79823 | 163693 | | | | ORPHA | 1 | | 53 | 26276 | 609559 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | CAMKMT CL E G H | 79823 | 163693 | | | | ORPHA | 1 | | 53 | 26276 | 609559 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | CAMKMT CL E G H | 79823 | 163693 | | | | ORPHA | 1 | | 53 | 26276 | 609559 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | COA6 CL E G H | 388753 | 616501 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 | 616501 | C4225304 | OMIM | 1 | | 100 | 18025 | 614772 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | COA6 CL E G H | 388753 | 616501 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 | 616501 | C4225304 | OMIM | 1 | | 100 | 18025 | 614772 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | COA6 CL E G H | 388753 | 616501 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 | 616501 | C4225304 | OMIM | 1 | | 100 | 18025 | 614772 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | COA6 CL E G H | 388753 | 616501 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 | 616501 | C4225304 | OMIM | 1 | | 100 | 18025 | 614772 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | COA6 CL E G H | 388753 | 616501 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 | 616501 | C4225304 | OMIM | 1 | | 100 | 18025 | 614772 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | COA6 CL E G H | 388753 | 616501 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 | 616501 | C4225304 | OMIM | 1 | | 100 | 18025 | 614772 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | COA6 CL E G H | 388753 | 616501 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 | 616501 | C4225304 | OMIM | 1 | | 100 | 18025 | 614772 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | COA7 CL E G H | 65260 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 58 | 25716 | 615623 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | COA7 CL E G H | 65260 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 58 | 25716 | 615623 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | COA7 CL E G H | 65260 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 58 | 25716 | 615623 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | COA7 CL E G H | 65260 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 58 | 25716 | 615623 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | COA7 CL E G H | 65260 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 58 | 25716 | 615623 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | COA7 CL E G H | 65260 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 58 | 25716 | 615623 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | COA7 CL E G H | 65260 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 58 | 25716 | 615623 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 346 | 25223 | 609825 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 346 | 25223 | 609825 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 346 | 25223 | 609825 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 346 | 25223 | 609825 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 346 | 25223 | 609825 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 346 | 25223 | 609825 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 346 | 25223 | 609825 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | COQ8A CL E G H | 56997 | 612016 | Coenzyme Q10 deficiency, primary, 4 | 612016 | C2677589 | OMIM | 1 | | 699 | 16812 | 606980 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | COQ8A CL E G H | 56997 | 612016 | Coenzyme Q10 deficiency, primary, 4 | 612016 | C2677589 | OMIM | 1 | | 699 | 16812 | 606980 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | COQ8A CL E G H | 56997 | 612016 | Coenzyme Q10 deficiency, primary, 4 | 612016 | C2677589 | OMIM | 1 | | 699 | 16812 | 606980 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | COQ8A CL E G H | 56997 | 612016 | Coenzyme Q10 deficiency, primary, 4 | 612016 | C2677589 | OMIM | 1 | | 699 | 16812 | 606980 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | COQ8A CL E G H | 56997 | 612016 | Coenzyme Q10 deficiency, primary, 4 | 612016 | C2677589 | OMIM | 1 | | 699 | 16812 | 606980 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | COQ8A CL E G H | 56997 | 612016 | Coenzyme Q10 deficiency, primary, 4 | 612016 | C2677589 | OMIM | 1 | | 699 | 16812 | 606980 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | COQ8A CL E G H | 56997 | 612016 | Coenzyme Q10 deficiency, primary, 4 | 612016 | C2677589 | OMIM | 1 | | 699 | 16812 | 606980 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | COQ9 CL E G H | 57017 | 614654 | Coenzyme Q10 deficiency, primary, 5 | 614654 | C3553374 | OMIM | 1 | | 276 | 25302 | 612837 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | COQ9 CL E G H | 57017 | 614654 | Coenzyme Q10 deficiency, primary, 5 | 614654 | C3553374 | OMIM | 1 | | 276 | 25302 | 612837 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | COQ9 CL E G H | 57017 | 614654 | Coenzyme Q10 deficiency, primary, 5 | 614654 | C3553374 | OMIM | 1 | | 276 | 25302 | 612837 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | COQ9 CL E G H | 57017 | 614654 | Coenzyme Q10 deficiency, primary, 5 | 614654 | C3553374 | OMIM | 1 | | 276 | 25302 | 612837 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | COQ9 CL E G H | 57017 | 614654 | Coenzyme Q10 deficiency, primary, 5 | 614654 | C3553374 | OMIM | 1 | | 276 | 25302 | 612837 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | COQ9 CL E G H | 57017 | 614654 | Coenzyme Q10 deficiency, primary, 5 | 614654 | C3553374 | OMIM | 1 | | 276 | 25302 | 612837 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | COQ9 CL E G H | 57017 | 614654 | Coenzyme Q10 deficiency, primary, 5 | 614654 | C3553374 | OMIM | 1 | | 276 | 25302 | 612837 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | COX10 CL E G H | 1352 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 356 | 2260 | 602125 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | COX10 CL E G H | 1352 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 356 | 2260 | 602125 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | COX10 CL E G H | 1352 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 356 | 2260 | 602125 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | COX10 CL E G H | 1352 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 356 | 2260 | 602125 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | COX10 CL E G H | 1352 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 356 | 2260 | 602125 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | COX10 CL E G H | 1352 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 356 | 2260 | 602125 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | COX10 CL E G H | 1352 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 356 | 2260 | 602125 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | COX10 CL E G H | 1352 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 356 | 2260 | 602125 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | COX10 CL E G H | 1352 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 356 | 2260 | 602125 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | COX10 CL E G H | 1352 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 356 | 2260 | 602125 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | COX10 CL E G H | 1352 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 356 | 2260 | 602125 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | COX10 CL E G H | 1352 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 356 | 2260 | 602125 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | COX10 CL E G H | 1352 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 356 | 2260 | 602125 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | COX10 CL E G H | 1352 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 356 | 2260 | 602125 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | COX14 CL E G H | 84987 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 38 | 28216 | 614478 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | COX14 CL E G H | 84987 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 38 | 28216 | 614478 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | COX14 CL E G H | 84987 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 38 | 28216 | 614478 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | COX14 CL E G H | 84987 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 38 | 28216 | 614478 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | COX14 CL E G H | 84987 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 38 | 28216 | 614478 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | COX14 CL E G H | 84987 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 38 | 28216 | 614478 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | COX14 CL E G H | 84987 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 38 | 28216 | 614478 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | COX15 CL E G H | 1355 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | COX15 CL E G H | 1355 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | COX15 CL E G H | 1355 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | COX15 CL E G H | 1355 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | COX15 CL E G H | 1355 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | COX15 CL E G H | 1355 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | COX15 CL E G H | 1355 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | COX20 CL E G H | 116228 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 206 | 26970 | 614698 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | COX20 CL E G H | 116228 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 206 | 26970 | 614698 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | COX20 CL E G H | 116228 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 206 | 26970 | 614698 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | COX20 CL E G H | 116228 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 206 | 26970 | 614698 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | COX20 CL E G H | 116228 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 206 | 26970 | 614698 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | COX20 CL E G H | 116228 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 206 | 26970 | 614698 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | COX20 CL E G H | 116228 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 206 | 26970 | 614698 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | COX6B1 CL E G H | 1340 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 68 | 2280 | 124089 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | COX6B1 CL E G H | 1340 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 68 | 2280 | 124089 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | COX6B1 CL E G H | 1340 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 68 | 2280 | 124089 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | COX6B1 CL E G H | 1340 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 68 | 2280 | 124089 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | COX6B1 CL E G H | 1340 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 68 | 2280 | 124089 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | COX6B1 CL E G H | 1340 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 68 | 2280 | 124089 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | COX6B1 CL E G H | 1340 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 68 | 2280 | 124089 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | COX8A CL E G H | 1351 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 32 | 2294 | 123870 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | COX8A CL E G H | 1351 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 32 | 2294 | 123870 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | COX8A CL E G H | 1351 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 32 | 2294 | 123870 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | COX8A CL E G H | 1351 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 32 | 2294 | 123870 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | COX8A CL E G H | 1351 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 32 | 2294 | 123870 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | COX8A CL E G H | 1351 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 32 | 2294 | 123870 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | COX8A CL E G H | 1351 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 32 | 2294 | 123870 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | CYC1 CL E G H | 1537 | 615453 | Mitochondrial complex III deficiency, nuclear type 6 | 615453 | C3809553 | OMIM | 1 | | 161 | 2579 | 123980 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | CYC1 CL E G H | 1537 | 615453 | Mitochondrial complex III deficiency, nuclear type 6 | 615453 | C3809553 | OMIM | 1 | | 161 | 2579 | 123980 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | CYC1 CL E G H | 1537 | 615453 | Mitochondrial complex III deficiency, nuclear type 6 | 615453 | C3809553 | OMIM | 1 | | 161 | 2579 | 123980 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | CYC1 CL E G H | 1537 | 615453 | Mitochondrial complex III deficiency, nuclear type 6 | 615453 | C3809553 | OMIM | 1 | | 161 | 2579 | 123980 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | CYC1 CL E G H | 1537 | 615453 | Mitochondrial complex III deficiency, nuclear type 6 | 615453 | C3809553 | OMIM | 1 | | 161 | 2579 | 123980 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | CYC1 CL E G H | 1537 | 615453 | Mitochondrial complex III deficiency, nuclear type 6 | 615453 | C3809553 | OMIM | 1 | | 161 | 2579 | 123980 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | CYC1 CL E G H | 1537 | 615453 | Mitochondrial complex III deficiency, nuclear type 6 | 615453 | C3809553 | OMIM | 1 | | 161 | 2579 | 123980 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | DBT CL E G H | 1629 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 683 | 2698 | 248610 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | DBT CL E G H | 1629 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 683 | 2698 | 248610 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | DBT CL E G H | 1629 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 683 | 2698 | 248610 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | DBT CL E G H | 1629 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 683 | 2698 | 248610 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | DBT CL E G H | 1629 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 683 | 2698 | 248610 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | DBT CL E G H | 1629 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 683 | 2698 | 248610 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | DBT CL E G H | 1629 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 683 | 2698 | 248610 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 239 | 2858 | 601465 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 239 | 2858 | 601465 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 239 | 2858 | 601465 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 239 | 2858 | 601465 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 239 | 2858 | 601465 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 239 | 2858 | 601465 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 239 | 2858 | 601465 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | DLAT CL E G H | 1737 | 245348 | Pyruvate dehydrogenase E2 deficiency | 245348 | C1855565 | OMIM | 1 | | 303 | 2896 | 608770 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | DLAT CL E G H | 1737 | 245348 | Pyruvate dehydrogenase E2 deficiency | 245348 | C1855565 | OMIM | 1 | | 303 | 2896 | 608770 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | DLAT CL E G H | 1737 | 245348 | Pyruvate dehydrogenase E2 deficiency | 245348 | C1855565 | OMIM | 1 | | 303 | 2896 | 608770 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | DLAT CL E G H | 1737 | 245348 | Pyruvate dehydrogenase E2 deficiency | 245348 | C1855565 | OMIM | 1 | | 303 | 2896 | 608770 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | DLAT CL E G H | 1737 | 245348 | Pyruvate dehydrogenase E2 deficiency | 245348 | C1855565 | OMIM | 1 | | 303 | 2896 | 608770 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | DLAT CL E G H | 1737 | 245348 | Pyruvate dehydrogenase E2 deficiency | 245348 | C1855565 | OMIM | 1 | | 303 | 2896 | 608770 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | DLAT CL E G H | 1737 | 245348 | Pyruvate dehydrogenase E2 deficiency | 245348 | C1855565 | OMIM | 1 | | 303 | 2896 | 608770 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | DLD CL E G H | 1738 | 2394 | Frontonasal dysplasia Klippel Feil syndrome | | | ORPHA | 1 | | 520 | 2898 | 238331 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | DLD CL E G H | 1738 | 2394 | Frontonasal dysplasia Klippel Feil syndrome | | | ORPHA | 1 | | 520 | 2898 | 238331 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | DLD CL E G H | 1738 | 2394 | Frontonasal dysplasia Klippel Feil syndrome | | | ORPHA | 1 | | 520 | 2898 | 238331 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | DLD CL E G H | 1738 | 2394 | Frontonasal dysplasia Klippel Feil syndrome | | | ORPHA | 1 | | 520 | 2898 | 238331 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | DLD CL E G H | 1738 | 2394 | Frontonasal dysplasia Klippel Feil syndrome | | | ORPHA | 1 | | 520 | 2898 | 238331 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | DLD CL E G H | 1738 | 2394 | Frontonasal dysplasia Klippel Feil syndrome | | | ORPHA | 1 | | 520 | 2898 | 238331 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | DLD CL E G H | 1738 | 2394 | Frontonasal dysplasia Klippel Feil syndrome | | | ORPHA | 1 | | 520 | 2898 | 238331 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 1 | | 520 | 2898 | 238331 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 1 | | 520 | 2898 | 238331 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 1 | | 520 | 2898 | 238331 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 1 | | 520 | 2898 | 238331 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 1 | | 520 | 2898 | 238331 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 1 | | 520 | 2898 | 238331 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 1 | | 520 | 2898 | 238331 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | DNM1L CL E G H | 10059 | 614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | 614388 | C3280660 | OMIM | 1 | | 591 | 2973 | 603850 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | DNM1L CL E G H | 10059 | 614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | 614388 | C3280660 | OMIM | 1 | | 591 | 2973 | 603850 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | DNM1L CL E G H | 10059 | 614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | 614388 | C3280660 | OMIM | 1 | | 591 | 2973 | 603850 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | DNM1L CL E G H | 10059 | 614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | 614388 | C3280660 | OMIM | 1 | | 591 | 2973 | 603850 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | DNM1L CL E G H | 10059 | 614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | 614388 | C3280660 | OMIM | 1 | | 591 | 2973 | 603850 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | DNM1L CL E G H | 10059 | 614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | 614388 | C3280660 | OMIM | 1 | | 591 | 2973 | 603850 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | DNM1L CL E G H | 10059 | 614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | 614388 | C3280660 | OMIM | 1 | | 591 | 2973 | 603850 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | EARS2 CL E G H | 124454 | 614924 | Combined oxidative phosphorylation deficiency 12 | 614924 | C3554079 | OMIM | 1 | | 336 | 29419 | 612799 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | EARS2 CL E G H | 124454 | 614924 | Combined oxidative phosphorylation deficiency 12 | 614924 | C3554079 | OMIM | 1 | | 336 | 29419 | 612799 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | EARS2 CL E G H | 124454 | 614924 | Combined oxidative phosphorylation deficiency 12 | 614924 | C3554079 | OMIM | 1 | | 336 | 29419 | 612799 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | EARS2 CL E G H | 124454 | 614924 | Combined oxidative phosphorylation deficiency 12 | 614924 | C3554079 | OMIM | 1 | | 336 | 29419 | 612799 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | EARS2 CL E G H | 124454 | 614924 | Combined oxidative phosphorylation deficiency 12 | 614924 | C3554079 | OMIM | 1 | | 336 | 29419 | 612799 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | EARS2 CL E G H | 124454 | 614924 | Combined oxidative phosphorylation deficiency 12 | 614924 | C3554079 | OMIM | 1 | | 336 | 29419 | 612799 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | EARS2 CL E G H | 124454 | 614924 | Combined oxidative phosphorylation deficiency 12 | 614924 | C3554079 | OMIM | 1 | | 336 | 29419 | 612799 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | ELAC2 CL E G H | 60528 | 615440 | Combined oxidative phosphorylation deficiency 17 | 615440 | C3809526 | OMIM | 1 | | 905 | 14198 | 605367 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | ELAC2 CL E G H | 60528 | 615440 | Combined oxidative phosphorylation deficiency 17 | 615440 | C3809526 | OMIM | 1 | | 905 | 14198 | 605367 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | ELAC2 CL E G H | 60528 | 615440 | Combined oxidative phosphorylation deficiency 17 | 615440 | C3809526 | OMIM | 1 | | 905 | 14198 | 605367 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | ELAC2 CL E G H | 60528 | 615440 | Combined oxidative phosphorylation deficiency 17 | 615440 | C3809526 | OMIM | 1 | | 905 | 14198 | 605367 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | ELAC2 CL E G H | 60528 | 615440 | Combined oxidative phosphorylation deficiency 17 | 615440 | C3809526 | OMIM | 1 | | 905 | 14198 | 605367 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | ELAC2 CL E G H | 60528 | 615440 | Combined oxidative phosphorylation deficiency 17 | 615440 | C3809526 | OMIM | 1 | | 905 | 14198 | 605367 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | ELAC2 CL E G H | 60528 | 615440 | Combined oxidative phosphorylation deficiency 17 | 615440 | C3809526 | OMIM | 1 | | 905 | 14198 | 605367 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | ETHE1 CL E G H | 23474 | 602473 | Ethylmalonic encephalopathy | 602473 | C1865349 | OMIM | 1 | | 338 | 23287 | 608451 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | ETHE1 CL E G H | 23474 | 602473 | Ethylmalonic encephalopathy | 602473 | C1865349 | OMIM | 1 | | 338 | 23287 | 608451 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | ETHE1 CL E G H | 23474 | 602473 | Ethylmalonic encephalopathy | 602473 | C1865349 | OMIM | 1 | | 338 | 23287 | 608451 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | ETHE1 CL E G H | 23474 | 602473 | Ethylmalonic encephalopathy | 602473 | C1865349 | OMIM | 1 | | 338 | 23287 | 608451 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | ETHE1 CL E G H | 23474 | 602473 | Ethylmalonic encephalopathy | 602473 | C1865349 | OMIM | 1 | | 338 | 23287 | 608451 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | ETHE1 CL E G H | 23474 | 602473 | Ethylmalonic encephalopathy | 602473 | C1865349 | OMIM | 1 | | 338 | 23287 | 608451 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | ETHE1 CL E G H | 23474 | 602473 | Ethylmalonic encephalopathy | 602473 | C1865349 | OMIM | 1 | | 338 | 23287 | 608451 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 564 | 21062 | 611592 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 564 | 21062 | 611592 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 564 | 21062 | 611592 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 564 | 21062 | 611592 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 564 | 21062 | 611592 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 564 | 21062 | 611592 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 564 | 21062 | 611592 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | FASTKD2 CL E G H | 22868 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 401 | 29160 | 612322 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | FASTKD2 CL E G H | 22868 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 401 | 29160 | 612322 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | FASTKD2 CL E G H | 22868 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 401 | 29160 | 612322 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | FASTKD2 CL E G H | 22868 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 401 | 29160 | 612322 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | FASTKD2 CL E G H | 22868 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 401 | 29160 | 612322 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | FASTKD2 CL E G H | 22868 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 401 | 29160 | 612322 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | FASTKD2 CL E G H | 22868 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 401 | 29160 | 612322 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | FBXL4 CL E G H | 26235 | 615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 615471 | C3809592 | OMIM | 1 | | 566 | 13601 | 605654 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | FBXL4 CL E G H | 26235 | 615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 615471 | C3809592 | OMIM | 1 | | 566 | 13601 | 605654 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | FBXL4 CL E G H | 26235 | 615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 615471 | C3809592 | OMIM | 1 | | 566 | 13601 | 605654 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | FBXL4 CL E G H | 26235 | 615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 615471 | C3809592 | OMIM | 1 | | 566 | 13601 | 605654 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | FBXL4 CL E G H | 26235 | 615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 615471 | C3809592 | OMIM | 1 | | 566 | 13601 | 605654 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | FBXL4 CL E G H | 26235 | 615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 615471 | C3809592 | OMIM | 1 | | 566 | 13601 | 605654 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | FBXL4 CL E G H | 26235 | 615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 615471 | C3809592 | OMIM | 1 | | 566 | 13601 | 605654 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | FH CL E G H | 2271 | 606812 | Fumarase deficiency | 606812 | C0342770 | OMIM | 1 | | 1798 | 3700 | 136850 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | FH CL E G H | 2271 | 606812 | Fumarase deficiency | 606812 | C0342770 | OMIM | 1 | | 1798 | 3700 | 136850 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | FH CL E G H | 2271 | 606812 | Fumarase deficiency | 606812 | C0342770 | OMIM | 1 | | 1798 | 3700 | 136850 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | FH CL E G H | 2271 | 606812 | Fumarase deficiency | 606812 | C0342770 | OMIM | 1 | | 1798 | 3700 | 136850 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | FH CL E G H | 2271 | 606812 | Fumarase deficiency | 606812 | C0342770 | OMIM | 1 | | 1798 | 3700 | 136850 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | FH CL E G H | 2271 | 606812 | Fumarase deficiency | 606812 | C0342770 | OMIM | 1 | | 1798 | 3700 | 136850 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | FH CL E G H | 2271 | 606812 | Fumarase deficiency | 606812 | C0342770 | OMIM | 1 | | 1798 | 3700 | 136850 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | FOXRED1 CL E G H | 55572 | 618241 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | 618241 | | OMIM | 1 | | 323 | 26927 | 613622 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | FOXRED1 CL E G H | 55572 | 618241 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | 618241 | | OMIM | 1 | | 323 | 26927 | 613622 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | FOXRED1 CL E G H | 55572 | 618241 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | 618241 | | OMIM | 1 | | 323 | 26927 | 613622 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | FOXRED1 CL E G H | 55572 | 618241 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | 618241 | | OMIM | 1 | | 323 | 26927 | 613622 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | FOXRED1 CL E G H | 55572 | 618241 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | 618241 | | OMIM | 1 | | 323 | 26927 | 613622 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | FOXRED1 CL E G H | 55572 | 618241 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | 618241 | | OMIM | 1 | | 323 | 26927 | 613622 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | FOXRED1 CL E G H | 55572 | 618241 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | 618241 | | OMIM | 1 | | 323 | 26927 | 613622 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | G6PC CL E G H | 2538 | 232200 | Glycogen storage disease type 1A | 232200 | C2919796 | OMIM | 1 | | | 4056 | 613742 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | G6PC CL E G H | 2538 | 232200 | Glycogen storage disease type 1A | 232200 | C2919796 | OMIM | 1 | | | 4056 | 613742 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | G6PC CL E G H | 2538 | 232200 | Glycogen storage disease type 1A | 232200 | C2919796 | OMIM | 1 | | | 4056 | 613742 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | G6PC CL E G H | 2538 | 232200 | Glycogen storage disease type 1A | 232200 | C2919796 | OMIM | 1 | | | 4056 | 613742 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | G6PC CL E G H | 2538 | 232200 | Glycogen storage disease type 1A | 232200 | C2919796 | OMIM | 1 | | | 4056 | 613742 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | G6PC CL E G H | 2538 | 232200 | Glycogen storage disease type 1A | 232200 | C2919796 | OMIM | 1 | | | 4056 | 613742 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | G6PC CL E G H | 2538 | 232200 | Glycogen storage disease type 1A | 232200 | C2919796 | OMIM | 1 | | | 4056 | 613742 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | GFER CL E G H | 2671 | 330054 | | | | ORPHA | 1 | | 200 | 4236 | 600924 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | GFER CL E G H | 2671 | 330054 | | | | ORPHA | 1 | | 200 | 4236 | 600924 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | GFER CL E G H | 2671 | 330054 | | | | ORPHA | 1 | | 200 | 4236 | 600924 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | GFER CL E G H | 2671 | 330054 | | | | ORPHA | 1 | | 200 | 4236 | 600924 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | GFER CL E G H | 2671 | 330054 | | | | ORPHA | 1 | | 200 | 4236 | 600924 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | GFER CL E G H | 2671 | 330054 | | | | ORPHA | 1 | | 200 | 4236 | 600924 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | GFER CL E G H | 2671 | 330054 | | | | ORPHA | 1 | | 200 | 4236 | 600924 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | GTPBP3 CL E G H | 84705 | 616198 | Combined oxidative phosphorylation deficiency 23 | 616198 | C4015447 | OMIM | 1 | | 466 | 14880 | 608536 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | GTPBP3 CL E G H | 84705 | 616198 | Combined oxidative phosphorylation deficiency 23 | 616198 | C4015447 | OMIM | 1 | | 466 | 14880 | 608536 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | GTPBP3 CL E G H | 84705 | 616198 | Combined oxidative phosphorylation deficiency 23 | 616198 | C4015447 | OMIM | 1 | | 466 | 14880 | 608536 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | GTPBP3 CL E G H | 84705 | 616198 | Combined oxidative phosphorylation deficiency 23 | 616198 | C4015447 | OMIM | 1 | | 466 | 14880 | 608536 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | GTPBP3 CL E G H | 84705 | 616198 | Combined oxidative phosphorylation deficiency 23 | 616198 | C4015447 | OMIM | 1 | | 466 | 14880 | 608536 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | GTPBP3 CL E G H | 84705 | 616198 | Combined oxidative phosphorylation deficiency 23 | 616198 | C4015447 | OMIM | 1 | | 466 | 14880 | 608536 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | GTPBP3 CL E G H | 84705 | 616198 | Combined oxidative phosphorylation deficiency 23 | 616198 | C4015447 | OMIM | 1 | | 466 | 14880 | 608536 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | HADHA CL E G H | 3030 | 609015 | Mitochondrial trifunctional protein deficiency | 609015 | C0342786 | OMIM | 1 | | 792 | 4801 | 600890 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | HADHA CL E G H | 3030 | 609015 | Mitochondrial trifunctional protein deficiency | 609015 | C0342786 | OMIM | 1 | | 792 | 4801 | 600890 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | HADHA CL E G H | 3030 | 609015 | Mitochondrial trifunctional protein deficiency | 609015 | C0342786 | OMIM | 1 | | 792 | 4801 | 600890 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | HADHA CL E G H | 3030 | 609015 | Mitochondrial trifunctional protein deficiency | 609015 | C0342786 | OMIM | 1 | | 792 | 4801 | 600890 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | HADHA CL E G H | 3030 | 609015 | Mitochondrial trifunctional protein deficiency | 609015 | C0342786 | OMIM | 1 | | 792 | 4801 | 600890 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | HADHA CL E G H | 3030 | 609015 | Mitochondrial trifunctional protein deficiency | 609015 | C0342786 | OMIM | 1 | | 792 | 4801 | 600890 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | HADHA CL E G H | 3030 | 609015 | Mitochondrial trifunctional protein deficiency | 609015 | C0342786 | OMIM | 1 | | 792 | 4801 | 600890 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | HADHB CL E G H | 3032 | 609015 | Mitochondrial trifunctional protein deficiency | 609015 | C0342786 | OMIM | 1 | | 367 | 4803 | 143450 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | HADHB CL E G H | 3032 | 609015 | Mitochondrial trifunctional protein deficiency | 609015 | C0342786 | OMIM | 1 | | 367 | 4803 | 143450 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | HADHB CL E G H | 3032 | 609015 | Mitochondrial trifunctional protein deficiency | 609015 | C0342786 | OMIM | 1 | | 367 | 4803 | 143450 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | HADHB CL E G H | 3032 | 609015 | Mitochondrial trifunctional protein deficiency | 609015 | C0342786 | OMIM | 1 | | 367 | 4803 | 143450 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | HADHB CL E G H | 3032 | 609015 | Mitochondrial trifunctional protein deficiency | 609015 | C0342786 | OMIM | 1 | | 367 | 4803 | 143450 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | HADHB CL E G H | 3032 | 609015 | Mitochondrial trifunctional protein deficiency | 609015 | C0342786 | OMIM | 1 | | 367 | 4803 | 143450 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | HADHB CL E G H | 3032 | 609015 | Mitochondrial trifunctional protein deficiency | 609015 | C0342786 | OMIM | 1 | | 367 | 4803 | 143450 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | HSD17B10 CL E G H | 3028 | 300438 | 2-methyl-3-hydroxybutyric aciduria | 300438 | C3266731 | OMIM | 1 | | 256 | 4800 | 300256 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | HSD17B10 CL E G H | 3028 | 300438 | 2-methyl-3-hydroxybutyric aciduria | 300438 | C3266731 | OMIM | 1 | | 256 | 4800 | 300256 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | HSD17B10 CL E G H | 3028 | 300438 | 2-methyl-3-hydroxybutyric aciduria | 300438 | C3266731 | OMIM | 1 | | 256 | 4800 | 300256 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | HSD17B10 CL E G H | 3028 | 300438 | 2-methyl-3-hydroxybutyric aciduria | 300438 | C3266731 | OMIM | 1 | | 256 | 4800 | 300256 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | HSD17B10 CL E G H | 3028 | 300438 | 2-methyl-3-hydroxybutyric aciduria | 300438 | C3266731 | OMIM | 1 | | 256 | 4800 | 300256 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | HSD17B10 CL E G H | 3028 | 300438 | 2-methyl-3-hydroxybutyric aciduria | 300438 | C3266731 | OMIM | 1 | | 256 | 4800 | 300256 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | HSD17B10 CL E G H | 3028 | 300438 | 2-methyl-3-hydroxybutyric aciduria | 300438 | C3266731 | OMIM | 1 | | 256 | 4800 | 300256 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 271 | 27302 | 615316 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 271 | 27302 | 615316 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 271 | 27302 | 615316 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 271 | 27302 | 615316 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 271 | 27302 | 615316 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 271 | 27302 | 615316 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 271 | 27302 | 615316 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | ISCU CL E G H | 23479 | 255125 | Myopathy with lactic acidosis, hereditary | 255125 | C1850718 | OMIM | 1 | | 160 | 29882 | 611911 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | ISCU CL E G H | 23479 | 255125 | Myopathy with lactic acidosis, hereditary | 255125 | C1850718 | OMIM | 1 | | 160 | 29882 | 611911 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | ISCU CL E G H | 23479 | 255125 | Myopathy with lactic acidosis, hereditary | 255125 | C1850718 | OMIM | 1 | | 160 | 29882 | 611911 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | ISCU CL E G H | 23479 | 255125 | Myopathy with lactic acidosis, hereditary | 255125 | C1850718 | OMIM | 1 | | 160 | 29882 | 611911 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | ISCU CL E G H | 23479 | 255125 | Myopathy with lactic acidosis, hereditary | 255125 | C1850718 | OMIM | 1 | | 160 | 29882 | 611911 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | ISCU CL E G H | 23479 | 255125 | Myopathy with lactic acidosis, hereditary | 255125 | C1850718 | OMIM | 1 | | 160 | 29882 | 611911 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | ISCU CL E G H | 23479 | 255125 | Myopathy with lactic acidosis, hereditary | 255125 | C1850718 | OMIM | 1 | | 160 | 29882 | 611911 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | LARS CL E G H | 51520 | 615438 | Infantile liver failure syndrome 1 | 615438 | C3809522 | OMIM | 1 | | | 6512 | 151350 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | LARS CL E G H | 51520 | 615438 | Infantile liver failure syndrome 1 | 615438 | C3809522 | OMIM | 1 | | | 6512 | 151350 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | LARS CL E G H | 51520 | 615438 | Infantile liver failure syndrome 1 | 615438 | C3809522 | OMIM | 1 | | | 6512 | 151350 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | LARS CL E G H | 51520 | 615438 | Infantile liver failure syndrome 1 | 615438 | C3809522 | OMIM | 1 | | | 6512 | 151350 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | LARS CL E G H | 51520 | 615438 | Infantile liver failure syndrome 1 | 615438 | C3809522 | OMIM | 1 | | | 6512 | 151350 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | LARS CL E G H | 51520 | 615438 | Infantile liver failure syndrome 1 | 615438 | C3809522 | OMIM | 1 | | | 6512 | 151350 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | LARS CL E G H | 51520 | 615438 | Infantile liver failure syndrome 1 | 615438 | C3809522 | OMIM | 1 | | | 6512 | 151350 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | LARS2 CL E G H | 23395 | 617021 | Hydrops, lactic acidosis, and sideroblastic anemia | 617021 | C4310761 | OMIM | 1 | | 416 | 17095 | 604544 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | LARS2 CL E G H | 23395 | 617021 | Hydrops, lactic acidosis, and sideroblastic anemia | 617021 | C4310761 | OMIM | 1 | | 416 | 17095 | 604544 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | LARS2 CL E G H | 23395 | 617021 | Hydrops, lactic acidosis, and sideroblastic anemia | 617021 | C4310761 | OMIM | 1 | | 416 | 17095 | 604544 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | LARS2 CL E G H | 23395 | 617021 | Hydrops, lactic acidosis, and sideroblastic anemia | 617021 | C4310761 | OMIM | 1 | | 416 | 17095 | 604544 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | LARS2 CL E G H | 23395 | 617021 | Hydrops, lactic acidosis, and sideroblastic anemia | 617021 | C4310761 | OMIM | 1 | | 416 | 17095 | 604544 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | LARS2 CL E G H | 23395 | 617021 | Hydrops, lactic acidosis, and sideroblastic anemia | 617021 | C4310761 | OMIM | 1 | | 416 | 17095 | 604544 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | LARS2 CL E G H | 23395 | 617021 | Hydrops, lactic acidosis, and sideroblastic anemia | 617021 | C4310761 | OMIM | 1 | | 416 | 17095 | 604544 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 410 | 16429 | 607031 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 410 | 16429 | 607031 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 410 | 16429 | 607031 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 410 | 16429 | 607031 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 410 | 16429 | 607031 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 410 | 16429 | 607031 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 410 | 16429 | 607031 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | LIPT1 CL E G H | 51601 | 616299 | Lipoyltransferase 1 deficiency | 616299 | C4225379 | OMIM | 1 | | 124 | 29569 | 610284 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | LIPT1 CL E G H | 51601 | 616299 | Lipoyltransferase 1 deficiency | 616299 | C4225379 | OMIM | 1 | | 124 | 29569 | 610284 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | LIPT1 CL E G H | 51601 | 616299 | Lipoyltransferase 1 deficiency | 616299 | C4225379 | OMIM | 1 | | 124 | 29569 | 610284 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | LIPT1 CL E G H | 51601 | 616299 | Lipoyltransferase 1 deficiency | 616299 | C4225379 | OMIM | 1 | | 124 | 29569 | 610284 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | LIPT1 CL E G H | 51601 | 616299 | Lipoyltransferase 1 deficiency | 616299 | C4225379 | OMIM | 1 | | 124 | 29569 | 610284 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | LIPT1 CL E G H | 51601 | 616299 | Lipoyltransferase 1 deficiency | 616299 | C4225379 | OMIM | 1 | | 124 | 29569 | 610284 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | LIPT1 CL E G H | 51601 | 616299 | Lipoyltransferase 1 deficiency | 616299 | C4225379 | OMIM | 1 | | 124 | 29569 | 610284 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | LRPPRC CL E G H | 10128 | 220111 | Leigh syndrome, French Canadian type | 220111 | C1857355 | OMIM | 1 | | 1479 | 15714 | 607544 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | LRPPRC CL E G H | 10128 | 220111 | Leigh syndrome, French Canadian type | 220111 | C1857355 | OMIM | 1 | | 1479 | 15714 | 607544 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | LRPPRC CL E G H | 10128 | 220111 | Leigh syndrome, French Canadian type | 220111 | C1857355 | OMIM | 1 | | 1479 | 15714 | 607544 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | LRPPRC CL E G H | 10128 | 220111 | Leigh syndrome, French Canadian type | 220111 | C1857355 | OMIM | 1 | | 1479 | 15714 | 607544 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | LRPPRC CL E G H | 10128 | 220111 | Leigh syndrome, French Canadian type | 220111 | C1857355 | OMIM | 1 | | 1479 | 15714 | 607544 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | LRPPRC CL E G H | 10128 | 220111 | Leigh syndrome, French Canadian type | 220111 | C1857355 | OMIM | 1 | | 1479 | 15714 | 607544 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | LRPPRC CL E G H | 10128 | 220111 | Leigh syndrome, French Canadian type | 220111 | C1857355 | OMIM | 1 | | 1479 | 15714 | 607544 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | LYRM4 CL E G H | 57128 | 615595 | Combined oxidative phosphorylation deficiency 19 | 615595 | C3810055 | OMIM | 1 | | 167 | 21365 | 613311 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | LYRM4 CL E G H | 57128 | 615595 | Combined oxidative phosphorylation deficiency 19 | 615595 | C3810055 | OMIM | 1 | | 167 | 21365 | 613311 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | LYRM4 CL E G H | 57128 | 615595 | Combined oxidative phosphorylation deficiency 19 | 615595 | C3810055 | OMIM | 1 | | 167 | 21365 | 613311 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | LYRM4 CL E G H | 57128 | 615595 | Combined oxidative phosphorylation deficiency 19 | 615595 | C3810055 | OMIM | 1 | | 167 | 21365 | 613311 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | LYRM4 CL E G H | 57128 | 615595 | Combined oxidative phosphorylation deficiency 19 | 615595 | C3810055 | OMIM | 1 | | 167 | 21365 | 613311 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | LYRM4 CL E G H | 57128 | 615595 | Combined oxidative phosphorylation deficiency 19 | 615595 | C3810055 | OMIM | 1 | | 167 | 21365 | 613311 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | LYRM4 CL E G H | 57128 | 615595 | Combined oxidative phosphorylation deficiency 19 | 615595 | C3810055 | OMIM | 1 | | 167 | 21365 | 613311 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | LYRM7 CL E G H | 90624 | 615838 | Mitochondrial complex III deficiency, nuclear type 8 | 615838 | C4014440 | OMIM | 1 | | 92 | 28072 | 615831 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | LYRM7 CL E G H | 90624 | 615838 | Mitochondrial complex III deficiency, nuclear type 8 | 615838 | C4014440 | OMIM | 1 | | 92 | 28072 | 615831 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | LYRM7 CL E G H | 90624 | 615838 | Mitochondrial complex III deficiency, nuclear type 8 | 615838 | C4014440 | OMIM | 1 | | 92 | 28072 | 615831 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | LYRM7 CL E G H | 90624 | 615838 | Mitochondrial complex III deficiency, nuclear type 8 | 615838 | C4014440 | OMIM | 1 | | 92 | 28072 | 615831 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | LYRM7 CL E G H | 90624 | 615838 | Mitochondrial complex III deficiency, nuclear type 8 | 615838 | C4014440 | OMIM | 1 | | 92 | 28072 | 615831 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | LYRM7 CL E G H | 90624 | 615838 | Mitochondrial complex III deficiency, nuclear type 8 | 615838 | C4014440 | OMIM | 1 | | 92 | 28072 | 615831 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | LYRM7 CL E G H | 90624 | 615838 | Mitochondrial complex III deficiency, nuclear type 8 | 615838 | C4014440 | OMIM | 1 | | 92 | 28072 | 615831 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | MIPEP CL E G H | 4285 | 617228 | Combined oxidative phosphorylation deficiency 31 | 617228 | C4310661 | OMIM | 1 | | 264 | 7104 | 602241 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | MIPEP CL E G H | 4285 | 617228 | Combined oxidative phosphorylation deficiency 31 | 617228 | C4310661 | OMIM | 1 | | 264 | 7104 | 602241 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | MIPEP CL E G H | 4285 | 617228 | Combined oxidative phosphorylation deficiency 31 | 617228 | C4310661 | OMIM | 1 | | 264 | 7104 | 602241 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | MIPEP CL E G H | 4285 | 617228 | Combined oxidative phosphorylation deficiency 31 | 617228 | C4310661 | OMIM | 1 | | 264 | 7104 | 602241 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | MIPEP CL E G H | 4285 | 617228 | Combined oxidative phosphorylation deficiency 31 | 617228 | C4310661 | OMIM | 1 | | 264 | 7104 | 602241 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | MIPEP CL E G H | 4285 | 617228 | Combined oxidative phosphorylation deficiency 31 | 617228 | C4310661 | OMIM | 1 | | 264 | 7104 | 602241 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | MIPEP CL E G H | 4285 | 617228 | Combined oxidative phosphorylation deficiency 31 | 617228 | C4310661 | OMIM | 1 | | 264 | 7104 | 602241 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | MLYCD CL E G H | 23417 | 248360 | Deficiency of malonyl-CoA decarboxylase | 248360 | C0342793 | OMIM | 1 | | 482 | 7150 | 606761 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | MLYCD CL E G H | 23417 | 248360 | Deficiency of malonyl-CoA decarboxylase | 248360 | C0342793 | OMIM | 1 | | 482 | 7150 | 606761 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | MLYCD CL E G H | 23417 | 248360 | Deficiency of malonyl-CoA decarboxylase | 248360 | C0342793 | OMIM | 1 | | 482 | 7150 | 606761 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | MLYCD CL E G H | 23417 | 248360 | Deficiency of malonyl-CoA decarboxylase | 248360 | C0342793 | OMIM | 1 | | 482 | 7150 | 606761 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | MLYCD CL E G H | 23417 | 248360 | Deficiency of malonyl-CoA decarboxylase | 248360 | C0342793 | OMIM | 1 | | 482 | 7150 | 606761 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | MLYCD CL E G H | 23417 | 248360 | Deficiency of malonyl-CoA decarboxylase | 248360 | C0342793 | OMIM | 1 | | 482 | 7150 | 606761 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | MLYCD CL E G H | 23417 | 248360 | Deficiency of malonyl-CoA decarboxylase | 248360 | C0342793 | OMIM | 1 | | 482 | 7150 | 606761 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | MPC1 CL E G H | 51660 | 614741 | Mitochondrial pyruvate carrier deficiency | 614741 | C3553607 | OMIM | 1 | | 98 | 21606 | 614738 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | MPC1 CL E G H | 51660 | 614741 | Mitochondrial pyruvate carrier deficiency | 614741 | C3553607 | OMIM | 1 | | 98 | 21606 | 614738 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | MPC1 CL E G H | 51660 | 614741 | Mitochondrial pyruvate carrier deficiency | 614741 | C3553607 | OMIM | 1 | | 98 | 21606 | 614738 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | MPC1 CL E G H | 51660 | 614741 | Mitochondrial pyruvate carrier deficiency | 614741 | C3553607 | OMIM | 1 | | 98 | 21606 | 614738 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | MPC1 CL E G H | 51660 | 614741 | Mitochondrial pyruvate carrier deficiency | 614741 | C3553607 | OMIM | 1 | | 98 | 21606 | 614738 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | MPC1 CL E G H | 51660 | 614741 | Mitochondrial pyruvate carrier deficiency | 614741 | C3553607 | OMIM | 1 | | 98 | 21606 | 614738 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | MPC1 CL E G H | 51660 | 614741 | Mitochondrial pyruvate carrier deficiency | 614741 | C3553607 | OMIM | 1 | | 98 | 21606 | 614738 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | MPV17 CL E G H | 4358 | 256810 | Navajo neurohepatopathy | 256810 | C1850406 | OMIM | 1 | | 264 | 7224 | 137960 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | MPV17 CL E G H | 4358 | 256810 | Navajo neurohepatopathy | 256810 | C1850406 | OMIM | 1 | | 264 | 7224 | 137960 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | MPV17 CL E G H | 4358 | 256810 | Navajo neurohepatopathy | 256810 | C1850406 | OMIM | 1 | | 264 | 7224 | 137960 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | MPV17 CL E G H | 4358 | 256810 | Navajo neurohepatopathy | 256810 | C1850406 | OMIM | 1 | | 264 | 7224 | 137960 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | MPV17 CL E G H | 4358 | 256810 | Navajo neurohepatopathy | 256810 | C1850406 | OMIM | 1 | | 264 | 7224 | 137960 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | MPV17 CL E G H | 4358 | 256810 | Navajo neurohepatopathy | 256810 | C1850406 | OMIM | 1 | | 264 | 7224 | 137960 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | MPV17 CL E G H | 4358 | 256810 | Navajo neurohepatopathy | 256810 | C1850406 | OMIM | 1 | | 264 | 7224 | 137960 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | MRPS16 CL E G H | 51021 | 610498 | Combined oxidative phosphorylation deficiency 2 | 610498 | C1864843 | OMIM | 1 | | 96 | 14048 | 609204 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | MRPS16 CL E G H | 51021 | 610498 | Combined oxidative phosphorylation deficiency 2 | 610498 | C1864843 | OMIM | 1 | | 96 | 14048 | 609204 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | MRPS16 CL E G H | 51021 | 610498 | Combined oxidative phosphorylation deficiency 2 | 610498 | C1864843 | OMIM | 1 | | 96 | 14048 | 609204 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | MRPS16 CL E G H | 51021 | 610498 | Combined oxidative phosphorylation deficiency 2 | 610498 | C1864843 | OMIM | 1 | | 96 | 14048 | 609204 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | MRPS16 CL E G H | 51021 | 610498 | Combined oxidative phosphorylation deficiency 2 | 610498 | C1864843 | OMIM | 1 | | 96 | 14048 | 609204 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | MRPS16 CL E G H | 51021 | 610498 | Combined oxidative phosphorylation deficiency 2 | 610498 | C1864843 | OMIM | 1 | | 96 | 14048 | 609204 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | MRPS16 CL E G H | 51021 | 610498 | Combined oxidative phosphorylation deficiency 2 | 610498 | C1864843 | OMIM | 1 | | 96 | 14048 | 609204 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | MRPS7 CL E G H | 51081 | 617872 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 | 617872 | CN807947 | OMIM | 1 | | 93 | 14499 | 611974 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | MRPS7 CL E G H | 51081 | 617872 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 | 617872 | CN807947 | OMIM | 1 | | 93 | 14499 | 611974 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | MRPS7 CL E G H | 51081 | 617872 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 | 617872 | CN807947 | OMIM | 1 | | 93 | 14499 | 611974 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | MRPS7 CL E G H | 51081 | 617872 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 | 617872 | CN807947 | OMIM | 1 | | 93 | 14499 | 611974 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | MRPS7 CL E G H | 51081 | 617872 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 | 617872 | CN807947 | OMIM | 1 | | 93 | 14499 | 611974 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | MRPS7 CL E G H | 51081 | 617872 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 | 617872 | CN807947 | OMIM | 1 | | 93 | 14499 | 611974 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | MRPS7 CL E G H | 51081 | 617872 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 | 617872 | CN807947 | OMIM | 1 | | 93 | 14499 | 611974 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | MT-CO1 CL E G H | 4512 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7419 | 516030 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | MT-CO1 CL E G H | 4512 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7419 | 516030 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | MT-CO1 CL E G H | 4512 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7419 | 516030 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | MT-CO1 CL E G H | 4512 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7419 | 516030 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | MT-CO1 CL E G H | 4512 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7419 | 516030 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | MT-CO1 CL E G H | 4512 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7419 | 516030 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | MT-CO1 CL E G H | 4512 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7419 | 516030 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | MT-CO2 CL E G H | 4513 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7421 | 516040 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | MT-CO2 CL E G H | 4513 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7421 | 516040 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | MT-CO2 CL E G H | 4513 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7421 | 516040 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | MT-CO2 CL E G H | 4513 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7421 | 516040 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | MT-CO2 CL E G H | 4513 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7421 | 516040 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | MT-CO2 CL E G H | 4513 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7421 | 516040 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | MT-CO2 CL E G H | 4513 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7421 | 516040 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | MT-CO3 CL E G H | 4514 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7422 | 516050 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | MT-CO3 CL E G H | 4514 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7422 | 516050 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | MT-CO3 CL E G H | 4514 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7422 | 516050 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | MT-CO3 CL E G H | 4514 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7422 | 516050 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | MT-CO3 CL E G H | 4514 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7422 | 516050 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | MT-CO3 CL E G H | 4514 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7422 | 516050 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | MT-CO3 CL E G H | 4514 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7422 | 516050 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | MT-CYB CL E G H | 4519 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7427 | 516020 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | MT-CYB CL E G H | 4519 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7427 | 516020 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | MT-CYB CL E G H | 4519 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7427 | 516020 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | MT-CYB CL E G H | 4519 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7427 | 516020 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | MT-CYB CL E G H | 4519 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7427 | 516020 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | MT-CYB CL E G H | 4519 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7427 | 516020 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | MT-CYB CL E G H | 4519 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7427 | 516020 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | MT-ND1 CL E G H | 4535 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7455 | 516000 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | MT-ND1 CL E G H | 4535 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7455 | 516000 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | MT-ND1 CL E G H | 4535 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7455 | 516000 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | MT-ND1 CL E G H | 4535 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7455 | 516000 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | MT-ND1 CL E G H | 4535 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7455 | 516000 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | MT-ND1 CL E G H | 4535 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7455 | 516000 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | MT-ND1 CL E G H | 4535 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7455 | 516000 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | MT-ND5 CL E G H | 4540 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7461 | 516005 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | MT-ND5 CL E G H | 4540 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7461 | 516005 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | MT-ND5 CL E G H | 4540 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7461 | 516005 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | MT-ND5 CL E G H | 4540 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7461 | 516005 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | MT-ND5 CL E G H | 4540 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7461 | 516005 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | MT-ND5 CL E G H | 4540 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7461 | 516005 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | MT-ND5 CL E G H | 4540 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7461 | 516005 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | MT-ND6 CL E G H | 4541 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7462 | 516006 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | MT-ND6 CL E G H | 4541 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7462 | 516006 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | MT-ND6 CL E G H | 4541 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7462 | 516006 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | MT-ND6 CL E G H | 4541 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7462 | 516006 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | MT-ND6 CL E G H | 4541 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7462 | 516006 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | MT-ND6 CL E G H | 4541 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7462 | 516006 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | MT-ND6 CL E G H | 4541 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7462 | 516006 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | MT-TC CL E G H | 4511 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7477 | 590020 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | MT-TC CL E G H | 4511 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7477 | 590020 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | MT-TC CL E G H | 4511 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7477 | 590020 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | MT-TC CL E G H | 4511 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7477 | 590020 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | MT-TC CL E G H | 4511 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7477 | 590020 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | MT-TC CL E G H | 4511 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7477 | 590020 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | MT-TC CL E G H | 4511 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7477 | 590020 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | MT-TF CL E G H | 4558 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7481 | 590070 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | MT-TF CL E G H | 4558 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7481 | 590070 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | MT-TF CL E G H | 4558 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7481 | 590070 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | MT-TF CL E G H | 4558 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7481 | 590070 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | MT-TF CL E G H | 4558 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7481 | 590070 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | MT-TF CL E G H | 4558 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7481 | 590070 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | MT-TF CL E G H | 4558 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7481 | 590070 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | MT-TK CL E G H | 4566 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7489 | 590060 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | MT-TK CL E G H | 4566 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7489 | 590060 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | MT-TK CL E G H | 4566 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7489 | 590060 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | MT-TK CL E G H | 4566 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7489 | 590060 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | MT-TK CL E G H | 4566 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7489 | 590060 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | MT-TK CL E G H | 4566 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7489 | 590060 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | MT-TK CL E G H | 4566 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7489 | 590060 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | MT-TL1 CL E G H | 4567 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7490 | 590050 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | MT-TL1 CL E G H | 4567 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7490 | 590050 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | MT-TL1 CL E G H | 4567 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7490 | 590050 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | MT-TL1 CL E G H | 4567 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7490 | 590050 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | MT-TL1 CL E G H | 4567 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7490 | 590050 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | MT-TL1 CL E G H | 4567 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7490 | 590050 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | MT-TL1 CL E G H | 4567 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7490 | 590050 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | MT-TN CL E G H | 4570 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7493 | 590010 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | MT-TN CL E G H | 4570 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7493 | 590010 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | MT-TN CL E G H | 4570 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7493 | 590010 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | MT-TN CL E G H | 4570 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7493 | 590010 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | MT-TN CL E G H | 4570 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7493 | 590010 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | MT-TN CL E G H | 4570 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7493 | 590010 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | MT-TN CL E G H | 4570 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7493 | 590010 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | MT-TQ CL E G H | 4572 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7495 | 590030 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | MT-TQ CL E G H | 4572 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7495 | 590030 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | MT-TQ CL E G H | 4572 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7495 | 590030 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | MT-TQ CL E G H | 4572 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7495 | 590030 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | MT-TQ CL E G H | 4572 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7495 | 590030 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | MT-TQ CL E G H | 4572 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7495 | 590030 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | MT-TQ CL E G H | 4572 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7495 | 590030 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | MT-TS1 CL E G H | 4574 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7497 | 590080 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | MT-TS1 CL E G H | 4574 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7497 | 590080 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | MT-TS1 CL E G H | 4574 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7497 | 590080 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | MT-TS1 CL E G H | 4574 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7497 | 590080 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | MT-TS1 CL E G H | 4574 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7497 | 590080 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | MT-TS1 CL E G H | 4574 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7497 | 590080 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | MT-TS1 CL E G H | 4574 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7497 | 590080 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | MT-TS1 CL E G H | 4574 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7497 | 590080 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | MT-TS1 CL E G H | 4574 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7497 | 590080 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | MT-TS1 CL E G H | 4574 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7497 | 590080 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | MT-TS1 CL E G H | 4574 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7497 | 590080 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | MT-TS1 CL E G H | 4574 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7497 | 590080 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | MT-TS1 CL E G H | 4574 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7497 | 590080 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | MT-TS1 CL E G H | 4574 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7497 | 590080 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | MT-TS2 CL E G H | 4575 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7498 | 590085 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | MT-TS2 CL E G H | 4575 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7498 | 590085 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | MT-TS2 CL E G H | 4575 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7498 | 590085 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | MT-TS2 CL E G H | 4575 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7498 | 590085 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | MT-TS2 CL E G H | 4575 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7498 | 590085 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | MT-TS2 CL E G H | 4575 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7498 | 590085 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | MT-TS2 CL E G H | 4575 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7498 | 590085 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | MT-TT CL E G H | 4576 | 551000 | Lethal infantile mitochondrial myopathy | 551000 | C1838876 | OMIM | 1 | | | 7499 | 590090 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | MT-TT CL E G H | 4576 | 551000 | Lethal infantile mitochondrial myopathy | 551000 | C1838876 | OMIM | 1 | | | 7499 | 590090 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | MT-TT CL E G H | 4576 | 551000 | Lethal infantile mitochondrial myopathy | 551000 | C1838876 | OMIM | 1 | | | 7499 | 590090 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | MT-TT CL E G H | 4576 | 551000 | Lethal infantile mitochondrial myopathy | 551000 | C1838876 | OMIM | 1 | | | 7499 | 590090 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | MT-TT CL E G H | 4576 | 551000 | Lethal infantile mitochondrial myopathy | 551000 | C1838876 | OMIM | 1 | | | 7499 | 590090 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | MT-TT CL E G H | 4576 | 551000 | Lethal infantile mitochondrial myopathy | 551000 | C1838876 | OMIM | 1 | | | 7499 | 590090 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | MT-TT CL E G H | 4576 | 551000 | Lethal infantile mitochondrial myopathy | 551000 | C1838876 | OMIM | 1 | | | 7499 | 590090 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | MT-TV CL E G H | 4577 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7500 | 590105 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | MT-TV CL E G H | 4577 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7500 | 590105 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | MT-TV CL E G H | 4577 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7500 | 590105 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | MT-TV CL E G H | 4577 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7500 | 590105 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | MT-TV CL E G H | 4577 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7500 | 590105 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | MT-TV CL E G H | 4577 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7500 | 590105 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | MT-TV CL E G H | 4577 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7500 | 590105 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | MT-TW CL E G H | 4578 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7501 | 590095 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | MT-TW CL E G H | 4578 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7501 | 590095 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | MT-TW CL E G H | 4578 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7501 | 590095 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | MT-TW CL E G H | 4578 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7501 | 590095 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | MT-TW CL E G H | 4578 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7501 | 590095 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | MT-TW CL E G H | 4578 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7501 | 590095 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | MT-TW CL E G H | 4578 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7501 | 590095 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | MTO1 CL E G H | 25821 | 614702 | Combined oxidative phosphorylation deficiency 10 | 614702 | C3553529 | OMIM | 1 | | 638 | 19261 | 614667 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | MTO1 CL E G H | 25821 | 614702 | Combined oxidative phosphorylation deficiency 10 | 614702 | C3553529 | OMIM | 1 | | 638 | 19261 | 614667 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | MTO1 CL E G H | 25821 | 614702 | Combined oxidative phosphorylation deficiency 10 | 614702 | C3553529 | OMIM | 1 | | 638 | 19261 | 614667 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | MTO1 CL E G H | 25821 | 614702 | Combined oxidative phosphorylation deficiency 10 | 614702 | C3553529 | OMIM | 1 | | 638 | 19261 | 614667 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | MTO1 CL E G H | 25821 | 614702 | Combined oxidative phosphorylation deficiency 10 | 614702 | C3553529 | OMIM | 1 | | 638 | 19261 | 614667 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | MTO1 CL E G H | 25821 | 614702 | Combined oxidative phosphorylation deficiency 10 | 614702 | C3553529 | OMIM | 1 | | 638 | 19261 | 614667 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | MTO1 CL E G H | 25821 | 614702 | Combined oxidative phosphorylation deficiency 10 | 614702 | C3553529 | OMIM | 1 | | 638 | 19261 | 614667 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | NAXE CL E G H | 128240 | 617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy | 617186 | C4310675 | OMIM | 1 | | 146 | 18453 | 608862 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | NAXE CL E G H | 128240 | 617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy | 617186 | C4310675 | OMIM | 1 | | 146 | 18453 | 608862 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | NAXE CL E G H | 128240 | 617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy | 617186 | C4310675 | OMIM | 1 | | 146 | 18453 | 608862 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | NAXE CL E G H | 128240 | 617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy | 617186 | C4310675 | OMIM | 1 | | 146 | 18453 | 608862 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | NAXE CL E G H | 128240 | 617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy | 617186 | C4310675 | OMIM | 1 | | 146 | 18453 | 608862 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | NAXE CL E G H | 128240 | 617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy | 617186 | C4310675 | OMIM | 1 | | 146 | 18453 | 608862 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | NAXE CL E G H | 128240 | 617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy | 617186 | C4310675 | OMIM | 1 | | 146 | 18453 | 608862 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | NDUFS4 CL E G H | 4724 | 252010 | Mitochondrial complex I deficiency | 252010 | C1838979 | OMIM | 1 | | 139 | 7711 | 602694 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | NDUFS4 CL E G H | 4724 | 252010 | Mitochondrial complex I deficiency | 252010 | C1838979 | OMIM | 1 | | 139 | 7711 | 602694 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | NDUFS4 CL E G H | 4724 | 252010 | Mitochondrial complex I deficiency | 252010 | C1838979 | OMIM | 1 | | 139 | 7711 | 602694 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | NDUFS4 CL E G H | 4724 | 252010 | Mitochondrial complex I deficiency | 252010 | C1838979 | OMIM | 1 | | 139 | 7711 | 602694 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | NDUFS4 CL E G H | 4724 | 252010 | Mitochondrial complex I deficiency | 252010 | C1838979 | OMIM | 1 | | 139 | 7711 | 602694 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | NDUFS4 CL E G H | 4724 | 252010 | Mitochondrial complex I deficiency | 252010 | C1838979 | OMIM | 1 | | 139 | 7711 | 602694 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | NDUFS4 CL E G H | 4724 | 252010 | Mitochondrial complex I deficiency | 252010 | C1838979 | OMIM | 1 | | 139 | 7711 | 602694 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | NFU1 CL E G H | 27247 | 605711 | Multiple mitochondrial dysfunctions syndrome 1 | 605711 | C3276432 | OMIM | 1 | | 169 | 16287 | 608100 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | NFU1 CL E G H | 27247 | 605711 | Multiple mitochondrial dysfunctions syndrome 1 | 605711 | C3276432 | OMIM | 1 | | 169 | 16287 | 608100 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | NFU1 CL E G H | 27247 | 605711 | Multiple mitochondrial dysfunctions syndrome 1 | 605711 | C3276432 | OMIM | 1 | | 169 | 16287 | 608100 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | NFU1 CL E G H | 27247 | 605711 | Multiple mitochondrial dysfunctions syndrome 1 | 605711 | C3276432 | OMIM | 1 | | 169 | 16287 | 608100 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | NFU1 CL E G H | 27247 | 605711 | Multiple mitochondrial dysfunctions syndrome 1 | 605711 | C3276432 | OMIM | 1 | | 169 | 16287 | 608100 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | NFU1 CL E G H | 27247 | 605711 | Multiple mitochondrial dysfunctions syndrome 1 | 605711 | C3276432 | OMIM | 1 | | 169 | 16287 | 608100 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | NFU1 CL E G H | 27247 | 605711 | Multiple mitochondrial dysfunctions syndrome 1 | 605711 | C3276432 | OMIM | 1 | | 169 | 16287 | 608100 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | PC CL E G H | 5091 | 266150 | Pyruvate carboxylase deficiency | 266150 | C0034341 | OMIM | 1 | | 1101 | 8636 | 608786 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | PC CL E G H | 5091 | 266150 | Pyruvate carboxylase deficiency | 266150 | C0034341 | OMIM | 1 | | 1101 | 8636 | 608786 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | PC CL E G H | 5091 | 266150 | Pyruvate carboxylase deficiency | 266150 | C0034341 | OMIM | 1 | | 1101 | 8636 | 608786 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | PC CL E G H | 5091 | 266150 | Pyruvate carboxylase deficiency | 266150 | C0034341 | OMIM | 1 | | 1101 | 8636 | 608786 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | PC CL E G H | 5091 | 266150 | Pyruvate carboxylase deficiency | 266150 | C0034341 | OMIM | 1 | | 1101 | 8636 | 608786 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | PC CL E G H | 5091 | 266150 | Pyruvate carboxylase deficiency | 266150 | C0034341 | OMIM | 1 | | 1101 | 8636 | 608786 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | PC CL E G H | 5091 | 266150 | Pyruvate carboxylase deficiency | 266150 | C0034341 | OMIM | 1 | | 1101 | 8636 | 608786 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | PCCA CL E G H | 5095 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 1189 | 8653 | 232000 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | PCCA CL E G H | 5095 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 1189 | 8653 | 232000 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | PCCA CL E G H | 5095 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 1189 | 8653 | 232000 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | PCCA CL E G H | 5095 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 1189 | 8653 | 232000 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | PCCA CL E G H | 5095 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 1189 | 8653 | 232000 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | PCCA CL E G H | 5095 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 1189 | 8653 | 232000 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | PCCA CL E G H | 5095 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 1189 | 8653 | 232000 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | PCCB CL E G H | 5096 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 971 | 8654 | 232050 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | PCCB CL E G H | 5096 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 971 | 8654 | 232050 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | PCCB CL E G H | 5096 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 971 | 8654 | 232050 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | PCCB CL E G H | 5096 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 971 | 8654 | 232050 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | PCCB CL E G H | 5096 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 971 | 8654 | 232050 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | PCCB CL E G H | 5096 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 971 | 8654 | 232050 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | PCCB CL E G H | 5096 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 971 | 8654 | 232050 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | PCK1 CL E G H | 5105 | 261680 | Phosphoenolpyruvate carboxykinase deficiency, cytosolic | 261680 | C1849814 | OMIM | 1 | | 235 | 8724 | 614168 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | PCK1 CL E G H | 5105 | 261680 | Phosphoenolpyruvate carboxykinase deficiency, cytosolic | 261680 | C1849814 | OMIM | 1 | | 235 | 8724 | 614168 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | PCK1 CL E G H | 5105 | 261680 | Phosphoenolpyruvate carboxykinase deficiency, cytosolic | 261680 | C1849814 | OMIM | 1 | | 235 | 8724 | 614168 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | PCK1 CL E G H | 5105 | 261680 | Phosphoenolpyruvate carboxykinase deficiency, cytosolic | 261680 | C1849814 | OMIM | 1 | | 235 | 8724 | 614168 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | PCK1 CL E G H | 5105 | 261680 | Phosphoenolpyruvate carboxykinase deficiency, cytosolic | 261680 | C1849814 | OMIM | 1 | | 235 | 8724 | 614168 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | PCK1 CL E G H | 5105 | 261680 | Phosphoenolpyruvate carboxykinase deficiency, cytosolic | 261680 | C1849814 | OMIM | 1 | | 235 | 8724 | 614168 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | PCK1 CL E G H | 5105 | 261680 | Phosphoenolpyruvate carboxykinase deficiency, cytosolic | 261680 | C1849814 | OMIM | 1 | | 235 | 8724 | 614168 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | PDHB CL E G H | 5162 | 614111 | Pyruvate dehydrogenase E1-beta deficiency | 614111 | C3279841 | OMIM | 1 | | 281 | 8808 | 179060 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | PDHB CL E G H | 5162 | 614111 | Pyruvate dehydrogenase E1-beta deficiency | 614111 | C3279841 | OMIM | 1 | | 281 | 8808 | 179060 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | PDHB CL E G H | 5162 | 614111 | Pyruvate dehydrogenase E1-beta deficiency | 614111 | C3279841 | OMIM | 1 | | 281 | 8808 | 179060 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | PDHB CL E G H | 5162 | 614111 | Pyruvate dehydrogenase E1-beta deficiency | 614111 | C3279841 | OMIM | 1 | | 281 | 8808 | 179060 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | PDHB CL E G H | 5162 | 614111 | Pyruvate dehydrogenase E1-beta deficiency | 614111 | C3279841 | OMIM | 1 | | 281 | 8808 | 179060 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | PDHB CL E G H | 5162 | 614111 | Pyruvate dehydrogenase E1-beta deficiency | 614111 | C3279841 | OMIM | 1 | | 281 | 8808 | 179060 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | PDHB CL E G H | 5162 | 614111 | Pyruvate dehydrogenase E1-beta deficiency | 614111 | C3279841 | OMIM | 1 | | 281 | 8808 | 179060 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | PDHX CL E G H | 8050 | 245349 | Pyruvate dehydrogenase E3-binding protein deficiency | 245349 | C1855553 | OMIM | 1 | | 372 | 21350 | 608769 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | PDHX CL E G H | 8050 | 245349 | Pyruvate dehydrogenase E3-binding protein deficiency | 245349 | C1855553 | OMIM | 1 | | 372 | 21350 | 608769 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | PDHX CL E G H | 8050 | 245349 | Pyruvate dehydrogenase E3-binding protein deficiency | 245349 | C1855553 | OMIM | 1 | | 372 | 21350 | 608769 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | PDHX CL E G H | 8050 | 245349 | Pyruvate dehydrogenase E3-binding protein deficiency | 245349 | C1855553 | OMIM | 1 | | 372 | 21350 | 608769 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | PDHX CL E G H | 8050 | 245349 | Pyruvate dehydrogenase E3-binding protein deficiency | 245349 | C1855553 | OMIM | 1 | | 372 | 21350 | 608769 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | PDHX CL E G H | 8050 | 245349 | Pyruvate dehydrogenase E3-binding protein deficiency | 245349 | C1855553 | OMIM | 1 | | 372 | 21350 | 608769 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | PDHX CL E G H | 8050 | 245349 | Pyruvate dehydrogenase E3-binding protein deficiency | 245349 | C1855553 | OMIM | 1 | | 372 | 21350 | 608769 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | PDP1 CL E G H | 54704 | 608782 | Pyruvate dehydrogenase phosphatase deficiency | 608782 | C1837429 | OMIM | 1 | | 185 | 9279 | 605993 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | PDP1 CL E G H | 54704 | 608782 | Pyruvate dehydrogenase phosphatase deficiency | 608782 | C1837429 | OMIM | 1 | | 185 | 9279 | 605993 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | PDP1 CL E G H | 54704 | 608782 | Pyruvate dehydrogenase phosphatase deficiency | 608782 | C1837429 | OMIM | 1 | | 185 | 9279 | 605993 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | PDP1 CL E G H | 54704 | 608782 | Pyruvate dehydrogenase phosphatase deficiency | 608782 | C1837429 | OMIM | 1 | | 185 | 9279 | 605993 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | PDP1 CL E G H | 54704 | 608782 | Pyruvate dehydrogenase phosphatase deficiency | 608782 | C1837429 | OMIM | 1 | | 185 | 9279 | 605993 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | PDP1 CL E G H | 54704 | 608782 | Pyruvate dehydrogenase phosphatase deficiency | 608782 | C1837429 | OMIM | 1 | | 185 | 9279 | 605993 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | PDP1 CL E G H | 54704 | 608782 | Pyruvate dehydrogenase phosphatase deficiency | 608782 | C1837429 | OMIM | 1 | | 185 | 9279 | 605993 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | PET100 CL E G H | 100131801 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 76 | 40038 | 614770 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | PET100 CL E G H | 100131801 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 76 | 40038 | 614770 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | PET100 CL E G H | 100131801 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 76 | 40038 | 614770 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | PET100 CL E G H | 100131801 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 76 | 40038 | 614770 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | PET100 CL E G H | 100131801 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 76 | 40038 | 614770 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | PET100 CL E G H | 100131801 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 76 | 40038 | 614770 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | PET100 CL E G H | 100131801 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 76 | 40038 | 614770 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | PHKG2 CL E G H | 5261 | 613027 | Glycogen storage disease IXc | 613027 | C2751643 | OMIM | 1 | | 216 | 8931 | 172471 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | PHKG2 CL E G H | 5261 | 613027 | Glycogen storage disease IXc | 613027 | C2751643 | OMIM | 1 | | 216 | 8931 | 172471 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | PHKG2 CL E G H | 5261 | 613027 | Glycogen storage disease IXc | 613027 | C2751643 | OMIM | 1 | | 216 | 8931 | 172471 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | PHKG2 CL E G H | 5261 | 613027 | Glycogen storage disease IXc | 613027 | C2751643 | OMIM | 1 | | 216 | 8931 | 172471 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | PHKG2 CL E G H | 5261 | 613027 | Glycogen storage disease IXc | 613027 | C2751643 | OMIM | 1 | | 216 | 8931 | 172471 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | PHKG2 CL E G H | 5261 | 613027 | Glycogen storage disease IXc | 613027 | C2751643 | OMIM | 1 | | 216 | 8931 | 172471 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | PHKG2 CL E G H | 5261 | 613027 | Glycogen storage disease IXc | 613027 | C2751643 | OMIM | 1 | | 216 | 8931 | 172471 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | PNPLA8 CL E G H | 50640 | 251950 | Mitochondrial myopathy with lactic acidosis | 251950 | C1855033 | OMIM | 1 | | 271 | 28900 | 612123 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | PNPLA8 CL E G H | 50640 | 251950 | Mitochondrial myopathy with lactic acidosis | 251950 | C1855033 | OMIM | 1 | | 271 | 28900 | 612123 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | PNPLA8 CL E G H | 50640 | 251950 | Mitochondrial myopathy with lactic acidosis | 251950 | C1855033 | OMIM | 1 | | 271 | 28900 | 612123 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | PNPLA8 CL E G H | 50640 | 251950 | Mitochondrial myopathy with lactic acidosis | 251950 | C1855033 | OMIM | 1 | | 271 | 28900 | 612123 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | PNPLA8 CL E G H | 50640 | 251950 | Mitochondrial myopathy with lactic acidosis | 251950 | C1855033 | OMIM | 1 | | 271 | 28900 | 612123 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | PNPLA8 CL E G H | 50640 | 251950 | Mitochondrial myopathy with lactic acidosis | 251950 | C1855033 | OMIM | 1 | | 271 | 28900 | 612123 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | PNPLA8 CL E G H | 50640 | 251950 | Mitochondrial myopathy with lactic acidosis | 251950 | C1855033 | OMIM | 1 | | 271 | 28900 | 612123 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | POLG CL E G H | 5428 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | POLG CL E G H | 5428 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | POLG CL E G H | 5428 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | POLG CL E G H | 5428 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | POLG CL E G H | 5428 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | POLG CL E G H | 5428 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | POLG CL E G H | 5428 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | PPM1B CL E G H | 5495 | 163693 | | | | ORPHA | 1 | | 45 | 9276 | 603770 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | PPM1B CL E G H | 5495 | 163693 | | | | ORPHA | 1 | | 45 | 9276 | 603770 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | PPM1B CL E G H | 5495 | 163693 | | | | ORPHA | 1 | | 45 | 9276 | 603770 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | PPM1B CL E G H | 5495 | 163693 | | | | ORPHA | 1 | | 45 | 9276 | 603770 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | PPM1B CL E G H | 5495 | 163693 | | | | ORPHA | 1 | | 45 | 9276 | 603770 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | PPM1B CL E G H | 5495 | 163693 | | | | ORPHA | 1 | | 45 | 9276 | 603770 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | PPM1B CL E G H | 5495 | 163693 | | | | ORPHA | 1 | | 45 | 9276 | 603770 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | PREPL CL E G H | 9581 | 163693 | | | | ORPHA | 1 | | 708 | 30228 | 609557 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | PREPL CL E G H | 9581 | 163693 | | | | ORPHA | 1 | | 708 | 30228 | 609557 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | PREPL CL E G H | 9581 | 163693 | | | | ORPHA | 1 | | 708 | 30228 | 609557 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | PREPL CL E G H | 9581 | 163693 | | | | ORPHA | 1 | | 708 | 30228 | 609557 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | PREPL CL E G H | 9581 | 163693 | | | | ORPHA | 1 | | 708 | 30228 | 609557 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | PREPL CL E G H | 9581 | 163693 | | | | ORPHA | 1 | | 708 | 30228 | 609557 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | PREPL CL E G H | 9581 | 163693 | | | | ORPHA | 1 | | 708 | 30228 | 609557 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | PUS1 CL E G H | 80324 | 2598 | Mitochondrial myopathy and sideroblastic anemia | | CN220387 | ORPHA | 1 | | 478 | 15508 | 608109 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | PUS1 CL E G H | 80324 | 2598 | Mitochondrial myopathy and sideroblastic anemia | | CN220387 | ORPHA | 1 | | 478 | 15508 | 608109 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | PUS1 CL E G H | 80324 | 2598 | Mitochondrial myopathy and sideroblastic anemia | | CN220387 | ORPHA | 1 | | 478 | 15508 | 608109 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | PUS1 CL E G H | 80324 | 2598 | Mitochondrial myopathy and sideroblastic anemia | | CN220387 | ORPHA | 1 | | 478 | 15508 | 608109 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | PUS1 CL E G H | 80324 | 2598 | Mitochondrial myopathy and sideroblastic anemia | | CN220387 | ORPHA | 1 | | 478 | 15508 | 608109 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | PUS1 CL E G H | 80324 | 2598 | Mitochondrial myopathy and sideroblastic anemia | | CN220387 | ORPHA | 1 | | 478 | 15508 | 608109 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | PUS1 CL E G H | 80324 | 2598 | Mitochondrial myopathy and sideroblastic anemia | | CN220387 | ORPHA | 1 | | 478 | 15508 | 608109 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | PUS1 CL E G H | 80324 | 600462 | Myopathy, lactic acidosis, and sideroblastic anemia 1 | 600462 | C1838103 | OMIM | 1 | | 478 | 15508 | 608109 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | PUS1 CL E G H | 80324 | 600462 | Myopathy, lactic acidosis, and sideroblastic anemia 1 | 600462 | C1838103 | OMIM | 1 | | 478 | 15508 | 608109 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | PUS1 CL E G H | 80324 | 600462 | Myopathy, lactic acidosis, and sideroblastic anemia 1 | 600462 | C1838103 | OMIM | 1 | | 478 | 15508 | 608109 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | PUS1 CL E G H | 80324 | 600462 | Myopathy, lactic acidosis, and sideroblastic anemia 1 | 600462 | C1838103 | OMIM | 1 | | 478 | 15508 | 608109 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | PUS1 CL E G H | 80324 | 600462 | Myopathy, lactic acidosis, and sideroblastic anemia 1 | 600462 | C1838103 | OMIM | 1 | | 478 | 15508 | 608109 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | PUS1 CL E G H | 80324 | 600462 | Myopathy, lactic acidosis, and sideroblastic anemia 1 | 600462 | C1838103 | OMIM | 1 | | 478 | 15508 | 608109 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | PUS1 CL E G H | 80324 | 600462 | Myopathy, lactic acidosis, and sideroblastic anemia 1 | 600462 | C1838103 | OMIM | 1 | | 478 | 15508 | 608109 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | RMND1 CL E G H | 55005 | 614922 | Combined oxidative phosphorylation deficiency 11 | 614922 | C3554067 | OMIM | 1 | | 262 | 21176 | 614917 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | RMND1 CL E G H | 55005 | 614922 | Combined oxidative phosphorylation deficiency 11 | 614922 | C3554067 | OMIM | 1 | | 262 | 21176 | 614917 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | RMND1 CL E G H | 55005 | 614922 | Combined oxidative phosphorylation deficiency 11 | 614922 | C3554067 | OMIM | 1 | | 262 | 21176 | 614917 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | RMND1 CL E G H | 55005 | 614922 | Combined oxidative phosphorylation deficiency 11 | 614922 | C3554067 | OMIM | 1 | | 262 | 21176 | 614917 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | RMND1 CL E G H | 55005 | 614922 | Combined oxidative phosphorylation deficiency 11 | 614922 | C3554067 | OMIM | 1 | | 262 | 21176 | 614917 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | RMND1 CL E G H | 55005 | 614922 | Combined oxidative phosphorylation deficiency 11 | 614922 | C3554067 | OMIM | 1 | | 262 | 21176 | 614917 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | RMND1 CL E G H | 55005 | 614922 | Combined oxidative phosphorylation deficiency 11 | 614922 | C3554067 | OMIM | 1 | | 262 | 21176 | 614917 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | RRM2B CL E G H | 50484 | 612075 | Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy | 612075 | C2749861 | OMIM | 1 | | 354 | 17296 | 604712 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | RRM2B CL E G H | 50484 | 612075 | Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy | 612075 | C2749861 | OMIM | 1 | | 354 | 17296 | 604712 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | RRM2B CL E G H | 50484 | 612075 | Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy | 612075 | C2749861 | OMIM | 1 | | 354 | 17296 | 604712 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | RRM2B CL E G H | 50484 | 612075 | Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy | 612075 | C2749861 | OMIM | 1 | | 354 | 17296 | 604712 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | RRM2B CL E G H | 50484 | 612075 | Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy | 612075 | C2749861 | OMIM | 1 | | 354 | 17296 | 604712 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | RRM2B CL E G H | 50484 | 612075 | Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy | 612075 | C2749861 | OMIM | 1 | | 354 | 17296 | 604712 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | RRM2B CL E G H | 50484 | 612075 | Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy | 612075 | C2749861 | OMIM | 1 | | 354 | 17296 | 604712 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 354 | 17296 | 604712 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 354 | 17296 | 604712 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 354 | 17296 | 604712 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 354 | 17296 | 604712 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 354 | 17296 | 604712 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 354 | 17296 | 604712 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 354 | 17296 | 604712 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | SCO1 CL E G H | 6341 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 212 | 10603 | 603644 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | SCO1 CL E G H | 6341 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 212 | 10603 | 603644 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | SCO1 CL E G H | 6341 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 212 | 10603 | 603644 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | SCO1 CL E G H | 6341 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 212 | 10603 | 603644 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | SCO1 CL E G H | 6341 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 212 | 10603 | 603644 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | SCO1 CL E G H | 6341 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 212 | 10603 | 603644 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | SCO1 CL E G H | 6341 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 212 | 10603 | 603644 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | SCO2 CL E G H | 9997 | 604377 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency | 604377 | C1858424 | OMIM | 1 | | 701 | 10604 | 604272 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | SCO2 CL E G H | 9997 | 604377 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency | 604377 | C1858424 | OMIM | 1 | | 701 | 10604 | 604272 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | SCO2 CL E G H | 9997 | 604377 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency | 604377 | C1858424 | OMIM | 1 | | 701 | 10604 | 604272 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | SCO2 CL E G H | 9997 | 604377 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency | 604377 | C1858424 | OMIM | 1 | | 701 | 10604 | 604272 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | SCO2 CL E G H | 9997 | 604377 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency | 604377 | C1858424 | OMIM | 1 | | 701 | 10604 | 604272 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | SCO2 CL E G H | 9997 | 604377 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency | 604377 | C1858424 | OMIM | 1 | | 701 | 10604 | 604272 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | SCO2 CL E G H | 9997 | 604377 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency | 604377 | C1858424 | OMIM | 1 | | 701 | 10604 | 604272 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | SDHA CL E G H | 6389 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 2503 | 10680 | 600857 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | SDHA CL E G H | 6389 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 2503 | 10680 | 600857 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | SDHA CL E G H | 6389 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 2503 | 10680 | 600857 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | SDHA CL E G H | 6389 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 2503 | 10680 | 600857 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | SDHA CL E G H | 6389 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 2503 | 10680 | 600857 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | SDHA CL E G H | 6389 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 2503 | 10680 | 600857 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | SDHA CL E G H | 6389 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 2503 | 10680 | 600857 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | SERAC1 CL E G H | 84947 | 614739 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 614739 | C3553597 | OMIM | 1 | | 400 | 21061 | 614725 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | SERAC1 CL E G H | 84947 | 614739 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 614739 | C3553597 | OMIM | 1 | | 400 | 21061 | 614725 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | SERAC1 CL E G H | 84947 | 614739 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 614739 | C3553597 | OMIM | 1 | | 400 | 21061 | 614725 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | SERAC1 CL E G H | 84947 | 614739 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 614739 | C3553597 | OMIM | 1 | | 400 | 21061 | 614725 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | SERAC1 CL E G H | 84947 | 614739 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 614739 | C3553597 | OMIM | 1 | | 400 | 21061 | 614725 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | SERAC1 CL E G H | 84947 | 614739 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 614739 | C3553597 | OMIM | 1 | | 400 | 21061 | 614725 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | SERAC1 CL E G H | 84947 | 614739 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 614739 | C3553597 | OMIM | 1 | | 400 | 21061 | 614725 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | SFXN4 CL E G H | 119559 | 615578 | Combined oxidative phosphorylation deficiency 18 | 615578 | C3810001 | OMIM | 1 | | 179 | 16088 | 615564 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | SFXN4 CL E G H | 119559 | 615578 | Combined oxidative phosphorylation deficiency 18 | 615578 | C3810001 | OMIM | 1 | | 179 | 16088 | 615564 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | SFXN4 CL E G H | 119559 | 615578 | Combined oxidative phosphorylation deficiency 18 | 615578 | C3810001 | OMIM | 1 | | 179 | 16088 | 615564 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | SFXN4 CL E G H | 119559 | 615578 | Combined oxidative phosphorylation deficiency 18 | 615578 | C3810001 | OMIM | 1 | | 179 | 16088 | 615564 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | SFXN4 CL E G H | 119559 | 615578 | Combined oxidative phosphorylation deficiency 18 | 615578 | C3810001 | OMIM | 1 | | 179 | 16088 | 615564 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | SFXN4 CL E G H | 119559 | 615578 | Combined oxidative phosphorylation deficiency 18 | 615578 | C3810001 | OMIM | 1 | | 179 | 16088 | 615564 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | SFXN4 CL E G H | 119559 | 615578 | Combined oxidative phosphorylation deficiency 18 | 615578 | C3810001 | OMIM | 1 | | 179 | 16088 | 615564 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | SLC25A19 CL E G H | 60386 | 607196 | Amish lethal microcephaly | 607196 | C1846648 | OMIM | 1 | | 182 | 14409 | 606521 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | SLC25A19 CL E G H | 60386 | 607196 | Amish lethal microcephaly | 607196 | C1846648 | OMIM | 1 | | 182 | 14409 | 606521 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | SLC25A19 CL E G H | 60386 | 607196 | Amish lethal microcephaly | 607196 | C1846648 | OMIM | 1 | | 182 | 14409 | 606521 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | SLC25A19 CL E G H | 60386 | 607196 | Amish lethal microcephaly | 607196 | C1846648 | OMIM | 1 | | 182 | 14409 | 606521 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | SLC25A19 CL E G H | 60386 | 607196 | Amish lethal microcephaly | 607196 | C1846648 | OMIM | 1 | | 182 | 14409 | 606521 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | SLC25A19 CL E G H | 60386 | 607196 | Amish lethal microcephaly | 607196 | C1846648 | OMIM | 1 | | 182 | 14409 | 606521 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | SLC25A19 CL E G H | 60386 | 607196 | Amish lethal microcephaly | 607196 | C1846648 | OMIM | 1 | | 182 | 14409 | 606521 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 176 | 10989 | 600370 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 176 | 10989 | 600370 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 176 | 10989 | 600370 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 176 | 10989 | 600370 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 176 | 10989 | 600370 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 176 | 10989 | 600370 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 176 | 10989 | 600370 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | SLC25A3 CL E G H | 5250 | 610773 | Mitochondrial phosphate carrier deficiency | 610773 | C1835845 | OMIM | 1 | | 176 | 10989 | 600370 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | SLC25A3 CL E G H | 5250 | 610773 | Mitochondrial phosphate carrier deficiency | 610773 | C1835845 | OMIM | 1 | | 176 | 10989 | 600370 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | SLC25A3 CL E G H | 5250 | 610773 | Mitochondrial phosphate carrier deficiency | 610773 | C1835845 | OMIM | 1 | | 176 | 10989 | 600370 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | SLC25A3 CL E G H | 5250 | 610773 | Mitochondrial phosphate carrier deficiency | 610773 | C1835845 | OMIM | 1 | | 176 | 10989 | 600370 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | SLC25A3 CL E G H | 5250 | 610773 | Mitochondrial phosphate carrier deficiency | 610773 | C1835845 | OMIM | 1 | | 176 | 10989 | 600370 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | SLC25A3 CL E G H | 5250 | 610773 | Mitochondrial phosphate carrier deficiency | 610773 | C1835845 | OMIM | 1 | | 176 | 10989 | 600370 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | SLC25A3 CL E G H | 5250 | 610773 | Mitochondrial phosphate carrier deficiency | 610773 | C1835845 | OMIM | 1 | | 176 | 10989 | 600370 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | SLC25A4 CL E G H | 291 | 1369 | | | | ORPHA | 1 | | 333 | 10990 | 103220 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | SLC25A4 CL E G H | 291 | 1369 | | | | ORPHA | 1 | | 333 | 10990 | 103220 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | SLC25A4 CL E G H | 291 | 1369 | | | | ORPHA | 1 | | 333 | 10990 | 103220 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | SLC25A4 CL E G H | 291 | 1369 | | | | ORPHA | 1 | | 333 | 10990 | 103220 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | SLC25A4 CL E G H | 291 | 1369 | | | | ORPHA | 1 | | 333 | 10990 | 103220 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | SLC25A4 CL E G H | 291 | 1369 | | | | ORPHA | 1 | | 333 | 10990 | 103220 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | SLC25A4 CL E G H | 291 | 1369 | | | | ORPHA | 1 | | 333 | 10990 | 103220 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | SLC25A4 CL E G H | 291 | 617184 | Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant | 617184 | C4310676 | OMIM | 1 | | 333 | 10990 | 103220 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | SLC25A4 CL E G H | 291 | 617184 | Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant | 617184 | C4310676 | OMIM | 1 | | 333 | 10990 | 103220 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | SLC25A4 CL E G H | 291 | 617184 | Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant | 617184 | C4310676 | OMIM | 1 | | 333 | 10990 | 103220 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | SLC25A4 CL E G H | 291 | 617184 | Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant | 617184 | C4310676 | OMIM | 1 | | 333 | 10990 | 103220 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | SLC25A4 CL E G H | 291 | 617184 | Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant | 617184 | C4310676 | OMIM | 1 | | 333 | 10990 | 103220 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | SLC25A4 CL E G H | 291 | 617184 | Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant | 617184 | C4310676 | OMIM | 1 | | 333 | 10990 | 103220 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | SLC25A4 CL E G H | 291 | 617184 | Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant | 617184 | C4310676 | OMIM | 1 | | 333 | 10990 | 103220 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | SLC25A4 CL E G H | 291 | 615418 | Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive | 615418 | C3809443 | OMIM | 1 | | 333 | 10990 | 103220 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | SLC25A4 CL E G H | 291 | 615418 | Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive | 615418 | C3809443 | OMIM | 1 | | 333 | 10990 | 103220 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | SLC25A4 CL E G H | 291 | 615418 | Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive | 615418 | C3809443 | OMIM | 1 | | 333 | 10990 | 103220 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | SLC25A4 CL E G H | 291 | 615418 | Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive | 615418 | C3809443 | OMIM | 1 | | 333 | 10990 | 103220 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | SLC25A4 CL E G H | 291 | 615418 | Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive | 615418 | C3809443 | OMIM | 1 | | 333 | 10990 | 103220 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | SLC25A4 CL E G H | 291 | 615418 | Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive | 615418 | C3809443 | OMIM | 1 | | 333 | 10990 | 103220 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | SLC25A4 CL E G H | 291 | 615418 | Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive | 615418 | C3809443 | OMIM | 1 | | 333 | 10990 | 103220 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | SLC37A4 CL E G H | 2542 | 232220 | Glucose-6-phosphate transport defect | 232220 | C0268146 | OMIM | 1 | | 903 | 4061 | 602671 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | SLC37A4 CL E G H | 2542 | 232220 | Glucose-6-phosphate transport defect | 232220 | C0268146 | OMIM | 1 | | 903 | 4061 | 602671 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | SLC37A4 CL E G H | 2542 | 232220 | Glucose-6-phosphate transport defect | 232220 | C0268146 | OMIM | 1 | | 903 | 4061 | 602671 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | SLC37A4 CL E G H | 2542 | 232220 | Glucose-6-phosphate transport defect | 232220 | C0268146 | OMIM | 1 | | 903 | 4061 | 602671 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | SLC37A4 CL E G H | 2542 | 232220 | Glucose-6-phosphate transport defect | 232220 | C0268146 | OMIM | 1 | | 903 | 4061 | 602671 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | SLC37A4 CL E G H | 2542 | 232220 | Glucose-6-phosphate transport defect | 232220 | C0268146 | OMIM | 1 | | 903 | 4061 | 602671 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | SLC37A4 CL E G H | 2542 | 232220 | Glucose-6-phosphate transport defect | 232220 | C0268146 | OMIM | 1 | | 903 | 4061 | 602671 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | SLC37A4 CL E G H | 2542 | 232240 | Phosphate transport defect | 232240 | C0342749 | OMIM | 1 | | 903 | 4061 | 602671 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | SLC37A4 CL E G H | 2542 | 232240 | Phosphate transport defect | 232240 | C0342749 | OMIM | 1 | | 903 | 4061 | 602671 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | SLC37A4 CL E G H | 2542 | 232240 | Phosphate transport defect | 232240 | C0342749 | OMIM | 1 | | 903 | 4061 | 602671 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | SLC37A4 CL E G H | 2542 | 232240 | Phosphate transport defect | 232240 | C0342749 | OMIM | 1 | | 903 | 4061 | 602671 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | SLC37A4 CL E G H | 2542 | 232240 | Phosphate transport defect | 232240 | C0342749 | OMIM | 1 | | 903 | 4061 | 602671 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | SLC37A4 CL E G H | 2542 | 232240 | Phosphate transport defect | 232240 | C0342749 | OMIM | 1 | | 903 | 4061 | 602671 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | SLC37A4 CL E G H | 2542 | 232240 | Phosphate transport defect | 232240 | C0342749 | OMIM | 1 | | 903 | 4061 | 602671 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | SLC3A1 CL E G H | 6519 | 163693 | | | | ORPHA | 1 | | 429 | 11025 | 104614 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | SLC3A1 CL E G H | 6519 | 163693 | | | | ORPHA | 1 | | 429 | 11025 | 104614 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | SLC3A1 CL E G H | 6519 | 163693 | | | | ORPHA | 1 | | 429 | 11025 | 104614 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | SLC3A1 CL E G H | 6519 | 163693 | | | | ORPHA | 1 | | 429 | 11025 | 104614 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | SLC3A1 CL E G H | 6519 | 163693 | | | | ORPHA | 1 | | 429 | 11025 | 104614 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | SLC3A1 CL E G H | 6519 | 163693 | | | | ORPHA | 1 | | 429 | 11025 | 104614 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | SLC3A1 CL E G H | 6519 | 163693 | | | | ORPHA | 1 | | 429 | 11025 | 104614 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 413 | 11448 | 603921 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | SUCLG1 CL E G H | 8802 | 245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) | 245400 | C3151476 | OMIM | 1 | | 303 | 11449 | 611224 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | SUCLG1 CL E G H | 8802 | 245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) | 245400 | C3151476 | OMIM | 1 | | 303 | 11449 | 611224 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | SUCLG1 CL E G H | 8802 | 245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) | 245400 | C3151476 | OMIM | 1 | | 303 | 11449 | 611224 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | SUCLG1 CL E G H | 8802 | 245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) | 245400 | C3151476 | OMIM | 1 | | 303 | 11449 | 611224 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | SUCLG1 CL E G H | 8802 | 245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) | 245400 | C3151476 | OMIM | 1 | | 303 | 11449 | 611224 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | SUCLG1 CL E G H | 8802 | 245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) | 245400 | C3151476 | OMIM | 1 | | 303 | 11449 | 611224 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | SUCLG1 CL E G H | 8802 | 245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) | 245400 | C3151476 | OMIM | 1 | | 303 | 11449 | 611224 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | SURF1 CL E G H | 6834 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 532 | 11474 | 185620 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | SURF1 CL E G H | 6834 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 532 | 11474 | 185620 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | SURF1 CL E G H | 6834 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 532 | 11474 | 185620 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | SURF1 CL E G H | 6834 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 532 | 11474 | 185620 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | SURF1 CL E G H | 6834 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 532 | 11474 | 185620 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | SURF1 CL E G H | 6834 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 532 | 11474 | 185620 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | SURF1 CL E G H | 6834 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 532 | 11474 | 185620 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | TACO1 CL E G H | 51204 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 117 | 24316 | 612958 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | TACO1 CL E G H | 51204 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 117 | 24316 | 612958 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | TACO1 CL E G H | 51204 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 117 | 24316 | 612958 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | TACO1 CL E G H | 51204 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 117 | 24316 | 612958 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | TACO1 CL E G H | 51204 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 117 | 24316 | 612958 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | TACO1 CL E G H | 51204 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 117 | 24316 | 612958 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | TACO1 CL E G H | 51204 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 117 | 24316 | 612958 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | TANGO2 CL E G H | 128989 | 616878 | TANGO2-Related Metabolic Encephalopathy and Arrhythmias | 616878 | C4225171 | OMIM | 1 | | 715 | 25439 | 616830 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | TANGO2 CL E G H | 128989 | 616878 | TANGO2-Related Metabolic Encephalopathy and Arrhythmias | 616878 | C4225171 | OMIM | 1 | | 715 | 25439 | 616830 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | TANGO2 CL E G H | 128989 | 616878 | TANGO2-Related Metabolic Encephalopathy and Arrhythmias | 616878 | C4225171 | OMIM | 1 | | 715 | 25439 | 616830 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | TANGO2 CL E G H | 128989 | 616878 | TANGO2-Related Metabolic Encephalopathy and Arrhythmias | 616878 | C4225171 | OMIM | 1 | | 715 | 25439 | 616830 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | TANGO2 CL E G H | 128989 | 616878 | TANGO2-Related Metabolic Encephalopathy and Arrhythmias | 616878 | C4225171 | OMIM | 1 | | 715 | 25439 | 616830 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | TANGO2 CL E G H | 128989 | 616878 | TANGO2-Related Metabolic Encephalopathy and Arrhythmias | 616878 | C4225171 | OMIM | 1 | | 715 | 25439 | 616830 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | TANGO2 CL E G H | 128989 | 616878 | TANGO2-Related Metabolic Encephalopathy and Arrhythmias | 616878 | C4225171 | OMIM | 1 | | 715 | 25439 | 616830 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 442 | 11831 | 188250 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | TMEM70 CL E G H | 54968 | 614052 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 | 614052 | C3279699 | OMIM | 1 | | 325 | 26050 | 612418 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | TMEM70 CL E G H | 54968 | 614052 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 | 614052 | C3279699 | OMIM | 1 | | 325 | 26050 | 612418 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | TMEM70 CL E G H | 54968 | 614052 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 | 614052 | C3279699 | OMIM | 1 | | 325 | 26050 | 612418 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | TMEM70 CL E G H | 54968 | 614052 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 | 614052 | C3279699 | OMIM | 1 | | 325 | 26050 | 612418 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | TMEM70 CL E G H | 54968 | 614052 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 | 614052 | C3279699 | OMIM | 1 | | 325 | 26050 | 612418 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | TMEM70 CL E G H | 54968 | 614052 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 | 614052 | C3279699 | OMIM | 1 | | 325 | 26050 | 612418 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | TMEM70 CL E G H | 54968 | 614052 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 | 614052 | C3279699 | OMIM | 1 | | 325 | 26050 | 612418 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | TPK1 CL E G H | 27010 | 614458 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | 614458 | C3280866 | OMIM | 1 | | 318 | 17358 | 606370 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | TPK1 CL E G H | 27010 | 614458 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | 614458 | C3280866 | OMIM | 1 | | 318 | 17358 | 606370 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | TPK1 CL E G H | 27010 | 614458 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | 614458 | C3280866 | OMIM | 1 | | 318 | 17358 | 606370 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | TPK1 CL E G H | 27010 | 614458 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | 614458 | C3280866 | OMIM | 1 | | 318 | 17358 | 606370 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | TPK1 CL E G H | 27010 | 614458 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | 614458 | C3280866 | OMIM | 1 | | 318 | 17358 | 606370 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | TPK1 CL E G H | 27010 | 614458 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | 614458 | C3280866 | OMIM | 1 | | 318 | 17358 | 606370 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | TPK1 CL E G H | 27010 | 614458 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | 614458 | C3280866 | OMIM | 1 | | 318 | 17358 | 606370 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | TRMT10C CL E G H | 54931 | 616974 | Combined oxidative phosphorylation deficiency 30 | 616974 | C4310773 | OMIM | 1 | | 54 | 26022 | 615423 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | TRMT10C CL E G H | 54931 | 616974 | Combined oxidative phosphorylation deficiency 30 | 616974 | C4310773 | OMIM | 1 | | 54 | 26022 | 615423 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | TRMT10C CL E G H | 54931 | 616974 | Combined oxidative phosphorylation deficiency 30 | 616974 | C4310773 | OMIM | 1 | | 54 | 26022 | 615423 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | TRMT10C CL E G H | 54931 | 616974 | Combined oxidative phosphorylation deficiency 30 | 616974 | C4310773 | OMIM | 1 | | 54 | 26022 | 615423 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | TRMT10C CL E G H | 54931 | 616974 | Combined oxidative phosphorylation deficiency 30 | 616974 | C4310773 | OMIM | 1 | | 54 | 26022 | 615423 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | TRMT10C CL E G H | 54931 | 616974 | Combined oxidative phosphorylation deficiency 30 | 616974 | C4310773 | OMIM | 1 | | 54 | 26022 | 615423 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | TRMT10C CL E G H | 54931 | 616974 | Combined oxidative phosphorylation deficiency 30 | 616974 | C4310773 | OMIM | 1 | | 54 | 26022 | 615423 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | TRMU CL E G H | 55687 | 613070 | Liver failure acute infantile | 613070 | C3278664 | OMIM | 1 | | 623 | 25481 | 610230 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | TRMU CL E G H | 55687 | 613070 | Liver failure acute infantile | 613070 | C3278664 | OMIM | 1 | | 623 | 25481 | 610230 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | TRMU CL E G H | 55687 | 613070 | Liver failure acute infantile | 613070 | C3278664 | OMIM | 1 | | 623 | 25481 | 610230 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | TRMU CL E G H | 55687 | 613070 | Liver failure acute infantile | 613070 | C3278664 | OMIM | 1 | | 623 | 25481 | 610230 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | TRMU CL E G H | 55687 | 613070 | Liver failure acute infantile | 613070 | C3278664 | OMIM | 1 | | 623 | 25481 | 610230 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | TRMU CL E G H | 55687 | 613070 | Liver failure acute infantile | 613070 | C3278664 | OMIM | 1 | | 623 | 25481 | 610230 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | TRMU CL E G H | 55687 | 613070 | Liver failure acute infantile | 613070 | C3278664 | OMIM | 1 | | 623 | 25481 | 610230 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | TSFM CL E G H | 10102 | 610505 | Combined oxidative phosphorylation deficiency 3 | 610505 | C1864840 | OMIM | 1 | | 434 | 12367 | 604723 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | TSFM CL E G H | 10102 | 610505 | Combined oxidative phosphorylation deficiency 3 | 610505 | C1864840 | OMIM | 1 | | 434 | 12367 | 604723 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | TSFM CL E G H | 10102 | 610505 | Combined oxidative phosphorylation deficiency 3 | 610505 | C1864840 | OMIM | 1 | | 434 | 12367 | 604723 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | TSFM CL E G H | 10102 | 610505 | Combined oxidative phosphorylation deficiency 3 | 610505 | C1864840 | OMIM | 1 | | 434 | 12367 | 604723 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | TSFM CL E G H | 10102 | 610505 | Combined oxidative phosphorylation deficiency 3 | 610505 | C1864840 | OMIM | 1 | | 434 | 12367 | 604723 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | TSFM CL E G H | 10102 | 610505 | Combined oxidative phosphorylation deficiency 3 | 610505 | C1864840 | OMIM | 1 | | 434 | 12367 | 604723 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | TSFM CL E G H | 10102 | 610505 | Combined oxidative phosphorylation deficiency 3 | 610505 | C1864840 | OMIM | 1 | | 434 | 12367 | 604723 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | TUFM CL E G H | 7284 | 610678 | Combined oxidative phosphorylation deficiency 4 | 610678 | C1857682 | OMIM | 1 | | 323 | 12420 | 602389 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | TUFM CL E G H | 7284 | 610678 | Combined oxidative phosphorylation deficiency 4 | 610678 | C1857682 | OMIM | 1 | | 323 | 12420 | 602389 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | TUFM CL E G H | 7284 | 610678 | Combined oxidative phosphorylation deficiency 4 | 610678 | C1857682 | OMIM | 1 | | 323 | 12420 | 602389 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | TUFM CL E G H | 7284 | 610678 | Combined oxidative phosphorylation deficiency 4 | 610678 | C1857682 | OMIM | 1 | | 323 | 12420 | 602389 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | TUFM CL E G H | 7284 | 610678 | Combined oxidative phosphorylation deficiency 4 | 610678 | C1857682 | OMIM | 1 | | 323 | 12420 | 602389 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | TUFM CL E G H | 7284 | 610678 | Combined oxidative phosphorylation deficiency 4 | 610678 | C1857682 | OMIM | 1 | | 323 | 12420 | 602389 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | TUFM CL E G H | 7284 | 610678 | Combined oxidative phosphorylation deficiency 4 | 610678 | C1857682 | OMIM | 1 | | 323 | 12420 | 602389 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | TYMP CL E G H | 1890 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 895 | 3148 | 131222 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | TYMP CL E G H | 1890 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 895 | 3148 | 131222 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | TYMP CL E G H | 1890 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 895 | 3148 | 131222 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | TYMP CL E G H | 1890 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 895 | 3148 | 131222 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | TYMP CL E G H | 1890 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 895 | 3148 | 131222 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | TYMP CL E G H | 1890 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 895 | 3148 | 131222 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | TYMP CL E G H | 1890 | 603041 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 603041 | C0872218 | OMIM | 1 | | 895 | 3148 | 131222 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 895 | 3148 | 131222 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 895 | 3148 | 131222 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 895 | 3148 | 131222 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 895 | 3148 | 131222 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 895 | 3148 | 131222 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 895 | 3148 | 131222 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 895 | 3148 | 131222 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | UQCC3 CL E G H | 790955 | 616111 | Mitochondrial complex III deficiency, nuclear type 9 | 616111 | C4015253 | OMIM | 1 | | 39 | 34399 | 616097 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | UQCC3 CL E G H | 790955 | 616111 | Mitochondrial complex III deficiency, nuclear type 9 | 616111 | C4015253 | OMIM | 1 | | 39 | 34399 | 616097 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | UQCC3 CL E G H | 790955 | 616111 | Mitochondrial complex III deficiency, nuclear type 9 | 616111 | C4015253 | OMIM | 1 | | 39 | 34399 | 616097 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | UQCC3 CL E G H | 790955 | 616111 | Mitochondrial complex III deficiency, nuclear type 9 | 616111 | C4015253 | OMIM | 1 | | 39 | 34399 | 616097 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | UQCC3 CL E G H | 790955 | 616111 | Mitochondrial complex III deficiency, nuclear type 9 | 616111 | C4015253 | OMIM | 1 | | 39 | 34399 | 616097 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | UQCC3 CL E G H | 790955 | 616111 | Mitochondrial complex III deficiency, nuclear type 9 | 616111 | C4015253 | OMIM | 1 | | 39 | 34399 | 616097 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | UQCC3 CL E G H | 790955 | 616111 | Mitochondrial complex III deficiency, nuclear type 9 | 616111 | C4015253 | OMIM | 1 | | 39 | 34399 | 616097 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | USP18 CL E G H | 11274 | 617397 | Pseudo-torch syndrome 2 | 617397 | C4479376 | OMIM | 1 | | 165 | 12616 | 607057 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | USP18 CL E G H | 11274 | 617397 | Pseudo-torch syndrome 2 | 617397 | C4479376 | OMIM | 1 | | 165 | 12616 | 607057 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | USP18 CL E G H | 11274 | 617397 | Pseudo-torch syndrome 2 | 617397 | C4479376 | OMIM | 1 | | 165 | 12616 | 607057 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | USP18 CL E G H | 11274 | 617397 | Pseudo-torch syndrome 2 | 617397 | C4479376 | OMIM | 1 | | 165 | 12616 | 607057 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | USP18 CL E G H | 11274 | 617397 | Pseudo-torch syndrome 2 | 617397 | C4479376 | OMIM | 1 | | 165 | 12616 | 607057 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | USP18 CL E G H | 11274 | 617397 | Pseudo-torch syndrome 2 | 617397 | C4479376 | OMIM | 1 | | 165 | 12616 | 607057 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | USP18 CL E G H | 11274 | 617397 | Pseudo-torch syndrome 2 | 617397 | C4479376 | OMIM | 1 | | 165 | 12616 | 607057 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | YARS2 CL E G H | 51067 | 2598 | Mitochondrial myopathy and sideroblastic anemia | | CN220387 | ORPHA | 1 | | 274 | 24249 | 610957 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | YARS2 CL E G H | 51067 | 2598 | Mitochondrial myopathy and sideroblastic anemia | | CN220387 | ORPHA | 1 | | 274 | 24249 | 610957 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | YARS2 CL E G H | 51067 | 2598 | Mitochondrial myopathy and sideroblastic anemia | | CN220387 | ORPHA | 1 | | 274 | 24249 | 610957 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | YARS2 CL E G H | 51067 | 2598 | Mitochondrial myopathy and sideroblastic anemia | | CN220387 | ORPHA | 1 | | 274 | 24249 | 610957 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | YARS2 CL E G H | 51067 | 2598 | Mitochondrial myopathy and sideroblastic anemia | | CN220387 | ORPHA | 1 | | 274 | 24249 | 610957 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | YARS2 CL E G H | 51067 | 2598 | Mitochondrial myopathy and sideroblastic anemia | | CN220387 | ORPHA | 1 | | 274 | 24249 | 610957 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | YARS2 CL E G H | 51067 | 2598 | Mitochondrial myopathy and sideroblastic anemia | | CN220387 | ORPHA | 1 | | 274 | 24249 | 610957 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | YARS2 CL E G H | 51067 | 613561 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | 613561 | C3150802 | OMIM | 1 | | 274 | 24249 | 610957 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | YARS2 CL E G H | 51067 | 613561 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | 613561 | C3150802 | OMIM | 1 | | 274 | 24249 | 610957 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | YARS2 CL E G H | 51067 | 613561 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | 613561 | C3150802 | OMIM | 1 | | 274 | 24249 | 610957 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | YARS2 CL E G H | 51067 | 613561 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | 613561 | C3150802 | OMIM | 1 | | 274 | 24249 | 610957 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | YARS2 CL E G H | 51067 | 613561 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | 613561 | C3150802 | OMIM | 1 | | 274 | 24249 | 610957 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | YARS2 CL E G H | 51067 | 613561 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | 613561 | C3150802 | OMIM | 1 | | 274 | 24249 | 610957 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | YARS2 CL E G H | 51067 | 613561 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | 613561 | C3150802 | OMIM | 1 | | 274 | 24249 | 610957 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | HADH CL E G H | 3033 | 71212 | | | | ORPHA | 0 | | 229 | 4799 | 601609 |
HP:0003128 | HP:0003128 | Lactic acidosis | 0 | TRNT1 CL E G H | 51095 | 616084 | Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay | 616084 | C4015172 | OMIM | 0 | | 620 | 17341 | 612907 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | HADH CL E G H | 3033 | 71212 | | | | ORPHA | 0 | | 229 | 4799 | 601609 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | HADH CL E G H | 3033 | 71212 | | | | ORPHA | 0 | | 229 | 4799 | 601609 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | HADH CL E G H | 3033 | 71212 | | | | ORPHA | 0 | | 229 | 4799 | 601609 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | HADH CL E G H | 3033 | 71212 | | | | ORPHA | 0 | | 229 | 4799 | 601609 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | HADH CL E G H | 3033 | 71212 | | | | ORPHA | 0 | | 229 | 4799 | 601609 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | HADH CL E G H | 3033 | 71212 | | | | ORPHA | 0 | | 229 | 4799 | 601609 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | HADH CL E G H | 3033 | 71212 | | | | ORPHA | 0 | | 229 | 4799 | 601609 |
HP:0003128 | HP:0004902 | Congenital lactic acidosis | 1 | TRNT1 CL E G H | 51095 | 616084 | Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay | 616084 | C4015172 | OMIM | 0 | | 620 | 17341 | 612907 |
HP:0003128 | HP:0004900 | Severe lactic acidosis | 1 | TRNT1 CL E G H | 51095 | 616084 | Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay | 616084 | C4015172 | OMIM | 0 | | 620 | 17341 | 612907 |
HP:0003128 | HP:0004925 | Chronic lactic acidosis | 1 | TRNT1 CL E G H | 51095 | 616084 | Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay | 616084 | C4015172 | OMIM | 0 | | 620 | 17341 | 612907 |
HP:0003128 | HP:0004898 | Persistent lactic acidosis | 1 | TRNT1 CL E G H | 51095 | 616084 | Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay | 616084 | C4015172 | OMIM | 0 | | 620 | 17341 | 612907 |
HP:0003128 | HP:0004913 | Intermittent lactic acidemia | 1 | TRNT1 CL E G H | 51095 | 616084 | Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay | 616084 | C4015172 | OMIM | 0 | | 620 | 17341 | 612907 |
HP:0003128 | HP:0004901 | Exercise-induced lactic acidemia | 1 | TRNT1 CL E G H | 51095 | 616084 | Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay | 616084 | C4015172 | OMIM | 0 | | 620 | 17341 | 612907 |
HP:0003128 | HP:0004897 | Stress/infection-induced lactic acidosis | 1 | TRNT1 CL E G H | 51095 | 616084 | Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay | 616084 | C4015172 | OMIM | 0 | | 620 | 17341 | 612907 |