Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | AARS2 CL E G H | 57505 | 21022 | OMIM:614096 | Combined oxidative phosphorylation deficiency 8 | | | | 143 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | ACAD8 CL E G H | 27034 | 87 | OMIM:611283 | Isobutyryl-CoA dehydrogenase deficiency | | | | 58 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | ACAD8 CL E G H | 27034 | 87 | ORPHA:79159 | Isobutyryl-CoA dehydrogenase deficiency | | | | 58 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | ACAD9 CL E G H | 28976 | 21497 | ORPHA:99901 | Acyl-CoA dehydrogenase 9 deficiency | | | | 98 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | ACAD9 CL E G H | 28976 | 21497 | OMIM:611126 | Mitochondrial complex I deficiency due to acad9 deficiency | | | | 98 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | ACADM CL E G H | 34 | 89 | OMIM:201450 | Acyl-Coa dehydrogenase, medium-chain, deficiency of | | | | 197 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | ACADM CL E G H | 34 | 89 | ORPHA:42 | Medium chain acyl-CoA dehydrogenase deficiency | | | | 197 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | ACADVL CL E G H | 37 | 92 | OMIM:201475 | Very long-chain acyl-CoA dehydrogenase deficiency | | | | 200 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | AFG3L2 CL E G H | 10939 | 315 | ORPHA:313772 | Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome | | | | 86 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300816 | Combined oxidative phosphorylation deficiency 6 | | | | 60 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | AK2 CL E G H | 204 | 362 | ORPHA:33355 | Reticular dysgenesis | HP:0040281 - Very frequent | | | 19 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | ATP5F1D CL E G H | 513 | 837 | OMIM:618120 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 5 | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | ATP5F1E CL E G H | 514 | 838 | OMIM:614053 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 3 | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | ATPAF2 CL E G H | 91647 | 18802 | OMIM:604273 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 1 | | | | 32 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | BCS1L CL E G H | 617 | 1020 | OMIM:124000 | Mitochondrial complex III deficiency, nuclear type 1 | | | | 72 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | BOLA3 CL E G H | 388962 | 24415 | OMIM:614299 | Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia | | | | 14 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | CAMKMT CL E G H | 79823 | 26276 | ORPHA:163693 | 2p21 microdeletion syndrome | | | | 1 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | CARS2 CL E G H | 79587 | 25695 | ORPHA:477774 | Combined oxidative phosphorylation defect type 27 | | | | 35 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | CARS2 CL E G H | 79587 | 25695 | OMIM:616672 | Combined oxidative phosphorylation deficiency 27 | | | | 35 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:616209 | Myopathy, isolated mitochondrial, autosomal dominant | | | | 11 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | COA3 CL E G H | 28958 | 24990 | OMIM:619058 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14 | | | | 2 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | COA5 CL E G H | 493753 | 33848 | OMIM:616500 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 | | | | 2 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | COA6 CL E G H | 388753 | 18025 | OMIM:616501 | CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4 | | | | 8 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | COA8 CL E G H | 84334 | 20492 | OMIM:619061 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17 | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:89842 | Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form | | | | 263 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | | | | 263 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | COX15 CL E G H | 1355 | 2263 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 104 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | COX16 CL E G H | 51241 | 20213 | OMIM:619355 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22 | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | COX20 CL E G H | 116228 | 26970 | OMIM:619054 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11 | | | | 25 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | COX4I1 CL E G H | 1327 | 2265 | OMIM:619060 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16 | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | COX5A CL E G H | 9377 | 2267 | OMIM:619064 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20 | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | COX6A2 CL E G H | 1339 | 2279 | OMIM:619062 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18 | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228308 | Carnitine palmitoyl transferase II deficiency, neonatal form | | | | 101 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228305 | Carnitine palmitoyl transferase II deficiency, severe infantile form | | | | 101 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | | | | 101 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | | | | 178 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | CYBA CL E G H | 1535 | 2577 | OMIM:233690 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE | | | | 27 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | CYBB CL E G H | 1536 | 2578 | OMIM:306400 | Chronic granulomatous disease, X-linked | | | | 111 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | CYC1 CL E G H | 1537 | 2579 | OMIM:615453 | Mitochondrial complex III deficiency, nuclear type 6 | | | | 12 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | CYP27A1 CL E G H | 1593 | 2605 | ORPHA:909 | Cerebrotendinous xanthomatosis | | | | 114 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | CYTB CL E G H | 4519 | 7427 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | DGUOK CL E G H | 1716 | 2858 | OMIM:251880 | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | | | | 57 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | DLAT CL E G H | 1737 | 2896 | OMIM:245348 | Pyruvate dehydrogenase E2 deficiency | | | | 82 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | DLD CL E G H | 1738 | 2898 | ORPHA:2394 | Pyruvate dehydrogenase E3 deficiency | | | | 89 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | DNMT1 CL E G H | 1786 | 2976 | ORPHA:314404 | Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome | HP:0040282 - Frequent | | | 145 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | EARS2 CL E G H | 124454 | 29419 | OMIM:614924 | Combined oxidative phosphorylation deficiency 12 | | | | 80 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | ECHS1 CL E G H | 1892 | 3151 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 33 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | ECHS1 CL E G H | 1892 | 3151 | OMIM:616277 | Mitochondrial short-chain enoyl-coa hydratase 1 deficiency | | | | 33 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | EHHADH CL E G H | 1962 | 3247 | ORPHA:3337 | Primary Fanconi renotubular syndrome | | | | 2 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | ETFA CL E G H | 2108 | 3481 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | | | | 37 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | ETFB CL E G H | 2109 | 3482 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | | | | 27 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | ETFDH CL E G H | 2110 | 3483 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | | | | 77 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | FBXL4 CL E G H | 26235 | 13601 | OMIM:615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | | | | 384 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | FOXRED1 CL E G H | 55572 | 26927 | ORPHA:2609 | Isolated complex I deficiency | | | | 61 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | FOXRED1 CL E G H | 55572 | 26927 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 61 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | FOXRED1 CL E G H | 55572 | 26927 | OMIM:618241 | Mitochondrial complex I deficiency, nuclear type 19 | | | | 61 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | FXN CL E G H | 2395 | 3951 | OMIM:229300 | Friedreich ataxia 1 | | | | 18 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | GATC CL E G H | 283459 | 25068 | OMIM:618839 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42 | | | | 1 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | GATM CL E G H | 2628 | 4175 | ORPHA:3337 | Primary Fanconi renotubular syndrome | | | | 86 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | GFER CL E G H | 2671 | 4236 | OMIM:613076 | Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay | | | | 14 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | GFM1 CL E G H | 85476 | 13780 | OMIM:609060 | Combined oxidative phosphorylation deficiency 1 | | | | 85 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | GLRX5 CL E G H | 51218 | 20134 | ORPHA:401866 | Childhood-onset spasticity with hyperglycinemia | | | | 17 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | GLRX5 CL E G H | 51218 | 20134 | OMIM:616859 | Spasticity, childhood-onset, with hyperglycinemia | | | | 17 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | GTPBP3 CL E G H | 84705 | 14880 | ORPHA:444013 | Combined oxidative phosphorylation defect type 23 | | | | 30 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | HADH CL E G H | 3033 | 4799 | OMIM:231530 | 3-Hydroxyacyl-Coa dehydrogenase deficiency | | | | 41 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | HADH CL E G H | 3033 | 4799 | ORPHA:71212 | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency | | | | 41 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | HADHA CL E G H | 3030 | 4801 | OMIM:609016 | Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency | | | | 99 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | HIBCH CL E G H | 26275 | 4908 | ORPHA:88639 | Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency | HP:0040282 - Frequent | | | 32 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | HMGCL CL E G H | 3155 | 5005 | OMIM:246450 | 3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency | | | | 35 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | HSD17B10 CL E G H | 3028 | 4800 | ORPHA:391428 | HSD10 disease, infantile type | HP:0040281 - Very frequent | | | 19 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | IBA57 CL E G H | 200205 | 27302 | ORPHA:468661 | Autosomal recessive spastic paraplegia type 74 | | | | 16 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | IBA57 CL E G H | 200205 | 27302 | OMIM:615330 | Multiple mitochondrial dysfunctions syndrome 3 | . | | | 16 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | ISCU CL E G H | 23479 | 29882 | OMIM:255125 | Myopathy with exercise intolerance, Swedish type | | | | 19 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | KARS1 CL E G H | 3735 | 6215 | OMIM:619147 | LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | LIPT1 CL E G H | 51601 | 29569 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 21 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | LRPPRC CL E G H | 10128 | 15714 | ORPHA:70472 | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | | | | 191 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | LYRM7 CL E G H | 90624 | 28072 | OMIM:615838 | Mitochondrial complex III deficiency, nuclear type 8 | | | | 10 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | MCCC2 CL E G H | 64087 | 6937 | OMIM:210210 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency | | | | 77 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | MECR CL E G H | 51102 | 19691 | ORPHA:508093 | MEPAN syndrome | | | | 6 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | MGME1 CL E G H | 92667 | 16205 | OMIM:615084 | Mitochondrial DNA depletion syndrome 11 | | | | 11 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | MIEF2 CL E G H | 125170 | 17920 | OMIM:619024 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49 | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | MMP1 CL E G H | 4312 | 7155 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | | | | 6 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | | | | 56 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | MRM2 CL E G H | 29960 | 16352 | OMIM:618567 | MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17 | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | MRPL12 CL E G H | 6182 | 10378 | OMIM:618951 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45 | | | | 11 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | MRPS14 CL E G H | 63931 | 14049 | OMIM:618378 | Combined oxidative phosphorylation deficiency 38 | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | MRPS16 CL E G H | 51021 | 14048 | OMIM:610498 | Combined oxidative phosphorylation deficiency 2 | | | | 60 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | MRPS23 CL E G H | 51649 | 14509 | OMIM:618952 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46; COXPD46 | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | MRPS25 CL E G H | 64432 | 14511 | OMIM:619025 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50 | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | MTFMT CL E G H | 123263 | 29666 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 29 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | MTFMT CL E G H | 123263 | 29666 | OMIM:618248 | Mitochondrial complex I deficiency, nuclear type 27 | | | | 29 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | MTRFR CL E G H | 91574 | 26784 | OMIM:613559 | Combined oxidative phosphorylation deficiency 7 | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:59135 | Laing early-onset distal myopathy | | | | 1269 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NADK2 CL E G H | 133686 | 26404 | OMIM:616034 | 2,4-Dienoyl-Coa reductase deficiency | | | | 14 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NADK2 CL E G H | 133686 | 26404 | ORPHA:431361 | Progressive encephalopathy with leukodystrophy due to DECR deficiency | | | | 14 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:2609 | Isolated complex I deficiency | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:2609 | Isolated complex I deficiency | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | ND3 CL E G H | 4537 | 7458 | ORPHA:2609 | Isolated complex I deficiency | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | ND4L CL E G H | 4539 | 7460 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFA1 CL E G H | 4694 | 7683 | ORPHA:2609 | Isolated complex I deficiency | | | | 7 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFA10 CL E G H | 4705 | 7684 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 91 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFA11 CL E G H | 126328 | 20371 | ORPHA:2609 | Isolated complex I deficiency | | | | 32 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFA11 CL E G H | 126328 | 20371 | OMIM:618236 | Mitochondrial complex I deficiency, nuclear type 14 | | | | 32 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFA12 CL E G H | 55967 | 23987 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 7 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFA12 CL E G H | 55967 | 23987 | OMIM:618244 | Mitochondrial complex I deficiency, nuclear type 23 | | | | 7 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFA13 CL E G H | 51079 | 17194 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 3 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFA2 CL E G H | 4695 | 7685 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 19 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFA4 CL E G H | 4697 | 7687 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 4 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFA4 CL E G H | 4697 | 7687 | OMIM:619065 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21 | | | | 4 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFA6 CL E G H | 4700 | 7690 | ORPHA:2609 | Isolated complex I deficiency | | | | 1 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFA6 CL E G H | 4700 | 7690 | OMIM:618253 | Mitochondrial complex I deficiency, nuclear type 33 | | | | 1 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFA8 CL E G H | 4702 | 7692 | OMIM:619272 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37 | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFA9 CL E G H | 4704 | 7693 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 27 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFA9 CL E G H | 4704 | 7693 | OMIM:618247 | Mitochondrial complex I deficiency, nuclear type 26 | | | | 27 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFAF1 CL E G H | 51103 | 18828 | ORPHA:2609 | Isolated complex I deficiency | | | | 40 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFAF2 CL E G H | 91942 | 28086 | ORPHA:2609 | Isolated complex I deficiency | | | | 26 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFAF2 CL E G H | 91942 | 28086 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 26 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:2609 | Isolated complex I deficiency | | | | 31 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFAF3 CL E G H | 25915 | 29918 | OMIM:618240 | Mitochondrial complex I deficiency, nuclear type 18 | | | | 31 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFAF4 CL E G H | 29078 | 21034 | ORPHA:2609 | Isolated complex I deficiency | | | | 50 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFAF4 CL E G H | 29078 | 21034 | OMIM:618237 | Mitochondrial complex I deficiency, nuclear type 15 | | | | 50 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFAF5 CL E G H | 79133 | 15899 | ORPHA:2609 | Isolated complex I deficiency | | | | 34 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFAF5 CL E G H | 79133 | 15899 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 34 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFAF5 CL E G H | 79133 | 15899 | OMIM:618238 | Mitochondrial complex I deficiency, nuclear type 16 | | | | 34 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFAF6 CL E G H | 137682 | 28625 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 39 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFAF6 CL E G H | 137682 | 28625 | OMIM:618239 | Mitochondrial complex I deficiency, nuclear type 17 | | | | 39 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFAF6 CL E G H | 137682 | 28625 | ORPHA:3337 | Primary Fanconi renotubular syndrome | | | | 39 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFAF8 CL E G H | 284184 | 33551 | ORPHA:2609 | Isolated complex I deficiency | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFAF8 CL E G H | 284184 | 33551 | OMIM:618776 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34 | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFB10 CL E G H | 4716 | 7696 | ORPHA:2609 | Isolated complex I deficiency | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFB10 CL E G H | 4716 | 7696 | OMIM:619003 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35 | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2609 | Isolated complex I deficiency | | | | 3 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFB3 CL E G H | 4709 | 7698 | ORPHA:2609 | Isolated complex I deficiency | | | | 9 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFB7 CL E G H | 4713 | 7702 | OMIM:620135 | | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFB9 CL E G H | 4715 | 7704 | ORPHA:2609 | Isolated complex I deficiency | | | | 16 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFB9 CL E G H | 4715 | 7704 | OMIM:618245 | Mitochondrial complex I deficiency, nuclear type 24 | | | | 16 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFC2 CL E G H | 4718 | 7706 | OMIM:619170 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36 | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFS1 CL E G H | 4719 | 7707 | ORPHA:2609 | Isolated complex I deficiency | | | | 81 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFS1 CL E G H | 4719 | 7707 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 81 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:2609 | Isolated complex I deficiency | | | | 65 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:104 | Leber hereditary optic neuropathy | | | | 65 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 65 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFS3 CL E G H | 4722 | 7710 | ORPHA:2609 | Isolated complex I deficiency | | | | 22 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFS3 CL E G H | 4722 | 7710 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 22 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFS3 CL E G H | 4722 | 7710 | OMIM:618230 | Mitochondrial complex I deficiency, nuclear type 8 | | | | 22 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFS4 CL E G H | 4724 | 7711 | ORPHA:2609 | Isolated complex I deficiency | | | | 27 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFS4 CL E G H | 4724 | 7711 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 27 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFS4 CL E G H | 4724 | 7711 | OMIM:252010 | Mitochondrial complex I deficiency, nuclear type 1 | | | | 27 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFS6 CL E G H | 4726 | 7713 | ORPHA:2609 | Isolated complex I deficiency | | | | 21 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFS7 CL E G H | 374291 | 7714 | ORPHA:2609 | Isolated complex I deficiency | | | | 38 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFS7 CL E G H | 374291 | 7714 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 38 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFS8 CL E G H | 4728 | 7715 | ORPHA:2609 | Isolated complex I deficiency | | | | 42 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFS8 CL E G H | 4728 | 7715 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 42 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFS8 CL E G H | 4728 | 7715 | OMIM:618222 | Mitochondrial complex I deficiency, nuclear type 2 | | | | 42 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFV1 CL E G H | 4723 | 7716 | ORPHA:2609 | Isolated complex I deficiency | | | | 74 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFV1 CL E G H | 4723 | 7716 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 74 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFV1 CL E G H | 4723 | 7716 | OMIM:618225 | Mitochondrial complex I deficiency, nuclear type 4 | | | | 74 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFV2 CL E G H | 4729 | 7717 | ORPHA:2609 | Isolated complex I deficiency | | | | 27 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NDUFV2 CL E G H | 4729 | 7717 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 27 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NEB CL E G H | 4703 | 7720 | OMIM:256030 | Nemaline myopathy 2, autosomal recessive | | | | 745 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NFS1 CL E G H | 9054 | 15910 | OMIM:619386 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52 | | | | 5 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NFU1 CL E G H | 27247 | 16287 | OMIM:605711 | Multiple mitochondrial dysfunctions syndrome 1 | | | | 34 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NSUN3 CL E G H | 63899 | 26208 | OMIM:619012 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48 | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NUBPL CL E G H | 80224 | 20278 | ORPHA:2609 | Isolated complex I deficiency | | | | 89 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | NUBPL CL E G H | 80224 | 20278 | OMIM:618242 | Mitochondrial complex I deficiency, nuclear type 21 | | | | 89 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | PDHA1 CL E G H | 5160 | 8806 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 88 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | PDHA1 CL E G H | 5160 | 8806 | OMIM:312170 | Pyruvate dehydrogenase e1-alpha deficiency | | | | 88 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | PDHB CL E G H | 5162 | 8808 | ORPHA:255138 | Pyruvate dehydrogenase E1-beta deficiency | | | | 37 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | PDHX CL E G H | 8050 | 21350 | OMIM:245349 | Pyruvate dehydrogenase e3-binding protein deficiency | | | | 98 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | PDHX CL E G H | 8050 | 21350 | ORPHA:255182 | Pyruvate dehydrogenase E3-binding protein deficiency | | | | 98 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | PDP1 CL E G H | 54704 | 9279 | OMIM:608782 | Pyruvate dehydrogenase phosphatase deficiency | | | | 52 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | PDP1 CL E G H | 54704 | 9279 | ORPHA:79246 | Pyruvate dehydrogenase phosphatase deficiency | | | | 52 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | PET100 CL E G H | 100131801 | 40038 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 6 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | PET100 CL E G H | 100131801 | 40038 | OMIM:619055 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12 | | | | 6 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | PET117 CL E G H | 100303755 | 40045 | OMIM:619063 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19 | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | PNPT1 CL E G H | 87178 | 23166 | ORPHA:319514 | Combined oxidative phosphorylation defect type 13 | | | | 60 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | POLG CL E G H | 5428 | 9179 | OMIM:203700 | Mitochondrial DNA depletion syndrome 4A (Alpers type) | . | | | 464 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | POLG CL E G H | 5428 | 9179 | OMIM:613662 | Mitochondrial DNA depletion syndrome 4B (mngie type) | | | | 464 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | PPM1B CL E G H | 5495 | 9276 | ORPHA:163693 | 2p21 microdeletion syndrome | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | PREPL CL E G H | 9581 | 30228 | ORPHA:163693 | 2p21 microdeletion syndrome | | | | 7 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | PTCD3 CL E G H | 55037 | 24717 | OMIM:619057 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51 | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | QRSL1 CL E G H | 55278 | 21020 | OMIM:618835 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40 | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | RARS2 CL E G H | 57038 | 21406 | OMIM:611523 | Pontocerebellar hypoplasia, type 6 | | | | 93 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | RRM2B CL E G H | 50484 | 17296 | OMIM:612075 | Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) | | | | 125 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | SCO1 CL E G H | 6341 | 10603 | OMIM:619048 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4 | | | | 46 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | SCO2 CL E G H | 9997 | 10604 | OMIM:604377 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | | | | 40 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | SDHA CL E G H | 6389 | 10680 | OMIM:613642 | Cardiomyopathy, dilated, 1gg | | | | 304 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 304 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | SDHA CL E G H | 6389 | 10680 | OMIM:252011 | Mitochondrial complex II deficiency | | | | 304 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | SDHB CL E G H | 6390 | 10681 | OMIM:619224 | MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4 | | | | 237 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | SDHD CL E G H | 6392 | 10683 | OMIM:619167 | MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3 | | | | 129 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | SLC19A3 CL E G H | 80704 | 16266 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 110 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | SLC22A5 CL E G H | 6584 | 10969 | OMIM:212140 | Carnitine deficiency, systemic primary | | | | 207 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | SLC25A10 CL E G H | 1468 | 10980 | OMIM:618972 | MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19 | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | SLC25A20 CL E G H | 788 | 1421 | ORPHA:159 | Carnitine-acylcarnitine translocase deficiency | | | | 40 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | SLC25A26 CL E G H | 115286 | 20661 | OMIM:616794 | Combined oxidative phosphorylation deficiency 28 | | | | 5 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | SLC25A4 CL E G H | 291 | 10990 | OMIM:615418 | Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) | | | | 68 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | SLC25A4 CL E G H | 291 | 10990 | OMIM:617184 | Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant | | | | 68 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | SLC34A1 CL E G H | 6569 | 11019 | ORPHA:3337 | Primary Fanconi renotubular syndrome | | | | 47 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | SLC39A8 CL E G H | 64116 | 20862 | ORPHA:468699 | SLC39A8-CDG | | | | 11 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | SLC3A1 CL E G H | 6519 | 11025 | ORPHA:163693 | 2p21 microdeletion syndrome | | | | 55 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | SUCLA2 CL E G H | 8803 | 11448 | OMIM:612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | | | | 66 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | SUCLG1 CL E G H | 8802 | 11449 | ORPHA:17 | Fatal infantile lactic acidosis with methylmalonic aciduria | | | | 60 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | SUCLG1 CL E G H | 8802 | 11449 | OMIM:245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) | | | | 60 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | SURF1 CL E G H | 6834 | 11474 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 73 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | TACO1 CL E G H | 51204 | 24316 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 23 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | TIMM22 CL E G H | 29928 | 17317 | OMIM:618851 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43 | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | TIMM50 CL E G H | 92609 | 23656 | ORPHA:505216 | 3-methylglutaconic aciduria type 9 | | | | 1 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | TIMMDC1 CL E G H | 51300 | 1321 | ORPHA:2609 | Isolated complex I deficiency | | | | 1 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | TIMMDC1 CL E G H | 51300 | 1321 | OMIM:618251 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31 | | | | 1 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | TK2 CL E G H | 7084 | 11831 | OMIM:609560 | Mitochondrial DNA depletion syndrome 2 (myopathic type) | | | | 103 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | TK2 CL E G H | 7084 | 11831 | OMIM:617069 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | | | | 103 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | TMEM126B CL E G H | 55863 | 30883 | ORPHA:2609 | Isolated complex I deficiency | | | | 4 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | TMEM70 CL E G H | 54968 | 26050 | OMIM:614052 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 2 | . | | | 63 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | TRIT1 CL E G H | 54802 | 20286 | OMIM:617873 | Combined oxidative phosphorylation deficiency 35 | | | | 12 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | TRMT5 CL E G H | 57570 | 23141 | OMIM:616539 | Combined oxidative phosphorylation deficiency 26 | | | | 4 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | TRMU CL E G H | 55687 | 25481 | OMIM:613070 | Liver failure, infantile, transient | | | | 101 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | TRMU CL E G H | 55687 | 25481 | ORPHA:254864 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | | | | 101 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | TRNE CL E G H | 4556 | 7479 | ORPHA:254864 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | TRNL2 CL E G H | 4568 | 7491 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | TRNN CL E G H | 4570 | 7493 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | | | | | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | TSFM CL E G H | 10102 | 12367 | OMIM:610505 | Combined oxidative phosphorylation deficiency 3 | | | | 43 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | TTN CL E G H | 7273 | 12403 | OMIM:611705 | Salih myopathy | | | | 7128 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | TXN2 CL E G H | 25828 | 17772 | ORPHA:478029 | Combined oxidative phosphorylation defect type 29 | | | | 1 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | TXN2 CL E G H | 25828 | 17772 | OMIM:616811 | Combined oxidative phosphorylation deficiency 29 | | | | 1 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | UQCC2 CL E G H | 84300 | 21237 | OMIM:615824 | Mitochondrial complex III deficiency, nuclear type 7 | | | | 7 | | |
HP:0003287 | HP:0003287 | Abnormality of mitochondrial metabolism | 0 | VARS2 CL E G H | 57176 | 21642 | OMIM:615917 | Combined oxidative phosphorylation deficiency 20 | | | | 56 | | |
HP:0003287 | HP:0008265 | Mitochondrial lysine transport defect | 1 | CL E G H | | | | | | | | | | |
HP:0003287 | HP:0003288 | Mitochondrial propionyl-CoA carboxylase defect | 1 | CL E G H | | | | | | | | | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | AARS2 CL E G H | 57505 | 21022 | OMIM:614096 | Combined oxidative phosphorylation deficiency 8 | | | | 143 | | |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | ACAD8 CL E G H | 27034 | 87 | OMIM:611283 | Isobutyryl-CoA dehydrogenase deficiency | . | | | 58 | | |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | ACAD8 CL E G H | 27034 | 87 | ORPHA:79159 | Isobutyryl-CoA dehydrogenase deficiency | HP:0040282 - Frequent | | | 58 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | ACAD9 CL E G H | 28976 | 21497 | ORPHA:99901 | Acyl-CoA dehydrogenase 9 deficiency | | | | 98 | | |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | ACAD9 CL E G H | 28976 | 21497 | ORPHA:99901 | Acyl-CoA dehydrogenase 9 deficiency | HP:0040282 - Frequent | | | 98 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | ACAD9 CL E G H | 28976 | 21497 | OMIM:611126 | Mitochondrial complex I deficiency due to acad9 deficiency | | | | 98 | | |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | ACADM CL E G H | 34 | 89 | OMIM:201450 | Acyl-Coa dehydrogenase, medium-chain, deficiency of | . | | | 197 | | |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | ACADM CL E G H | 34 | 89 | ORPHA:42 | Medium chain acyl-CoA dehydrogenase deficiency | | | | 197 | | |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | ACADVL CL E G H | 37 | 92 | OMIM:201475 | Very long-chain acyl-CoA dehydrogenase deficiency | | | | 200 | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | AFG3L2 CL E G H | 10939 | 315 | ORPHA:313772 | Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome | HP:0040282 - Frequent | | | 86 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300816 | Combined oxidative phosphorylation deficiency 6 | | | | 60 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | ATP5F1D CL E G H | 513 | 837 | OMIM:618120 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 5 | | | | | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | ATP5F1E CL E G H | 514 | 838 | OMIM:614053 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 3 | | | | | | |
HP:0003287 | HP:0200125 | Mitochondrial respiratory chain defects | 1 | ATP6 CL E G H | 4508 | 7414 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | ATPAF2 CL E G H | 91647 | 18802 | OMIM:604273 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 1 | | | | 32 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | BCS1L CL E G H | 617 | 1020 | OMIM:124000 | Mitochondrial complex III deficiency, nuclear type 1 | | | | 72 | | |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | BOLA3 CL E G H | 388962 | 24415 | OMIM:614299 | Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia | | | | 14 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | BOLA3 CL E G H | 388962 | 24415 | OMIM:614299 | Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia | | | | 14 | | |
HP:0003287 | HP:0200125 | Mitochondrial respiratory chain defects | 1 | CAMKMT CL E G H | 79823 | 26276 | ORPHA:163693 | 2p21 microdeletion syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | CARS2 CL E G H | 79587 | 25695 | ORPHA:477774 | Combined oxidative phosphorylation defect type 27 | | | | 35 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | CARS2 CL E G H | 79587 | 25695 | OMIM:616672 | Combined oxidative phosphorylation deficiency 27 | | | | 35 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:616209 | Myopathy, isolated mitochondrial, autosomal dominant | | | | 11 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | COA3 CL E G H | 28958 | 24990 | OMIM:619058 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14 | | | | 2 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | COA5 CL E G H | 493753 | 33848 | OMIM:616500 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 | | | | 2 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | COA6 CL E G H | 388753 | 18025 | OMIM:616501 | CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4 | | | | 8 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | COA8 CL E G H | 84334 | 20492 | OMIM:619061 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17 | | | | | | |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:89842 | Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form | HP:0040282 - Frequent | | | 263 | | |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | | | | 263 | | |
HP:0003287 | HP:0200125 | Mitochondrial respiratory chain defects | 1 | COX1 CL E G H | 4512 | 7419 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | COX15 CL E G H | 1355 | 2263 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 104 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | COX15 CL E G H | 1355 | 2263 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 104 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | COX16 CL E G H | 51241 | 20213 | OMIM:619355 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22 | | | | | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | COX20 CL E G H | 116228 | 26970 | OMIM:619054 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11 | | | | 25 | | |
HP:0003287 | HP:0200125 | Mitochondrial respiratory chain defects | 1 | COX3 CL E G H | 4514 | 7422 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | COX4I1 CL E G H | 1327 | 2265 | OMIM:619060 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16 | | | | | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | COX5A CL E G H | 9377 | 2267 | OMIM:619064 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20 | | | | | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | COX6A2 CL E G H | 1339 | 2279 | OMIM:619062 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18 | | | | | | |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228308 | Carnitine palmitoyl transferase II deficiency, neonatal form | | | | 101 | | |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228305 | Carnitine palmitoyl transferase II deficiency, severe infantile form | | | | 101 | | |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | | | | 101 | | |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | . | | | 178 | | |
HP:0003287 | HP:0003514 | Deficiency or absence of cytochrome b(-245) | 1 | CYBA CL E G H | 1535 | 2577 | OMIM:233690 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE | . | | | 27 | | |
HP:0003287 | HP:0003514 | Deficiency or absence of cytochrome b(-245) | 1 | CYBB CL E G H | 1536 | 2578 | OMIM:306400 | Chronic granulomatous disease, X-linked | . | | | 111 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | CYC1 CL E G H | 1537 | 2579 | OMIM:615453 | Mitochondrial complex III deficiency, nuclear type 6 | | | | 12 | | |
HP:0003287 | HP:0200125 | Mitochondrial respiratory chain defects | 1 | CYP27A1 CL E G H | 1593 | 2605 | ORPHA:909 | Cerebrotendinous xanthomatosis | HP:0040283 - Occasional | | | 114 | | |
HP:0003287 | HP:0200125 | Mitochondrial respiratory chain defects | 1 | CYTB CL E G H | 4519 | 7427 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | DGUOK CL E G H | 1716 | 2858 | OMIM:251880 | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | | | | 57 | | |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | DLAT CL E G H | 1737 | 2896 | OMIM:245348 | Pyruvate dehydrogenase E2 deficiency | . | | | 82 | | |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | DLD CL E G H | 1738 | 2898 | ORPHA:2394 | Pyruvate dehydrogenase E3 deficiency | HP:0040283 - Occasional | | | 89 | | |
HP:0003287 | HP:0200125 | Mitochondrial respiratory chain defects | 1 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | EARS2 CL E G H | 124454 | 29419 | OMIM:614924 | Combined oxidative phosphorylation deficiency 12 | | | | 80 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | ECHS1 CL E G H | 1892 | 3151 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 33 | | |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | ECHS1 CL E G H | 1892 | 3151 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 33 | | |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | ECHS1 CL E G H | 1892 | 3151 | OMIM:616277 | Mitochondrial short-chain enoyl-coa hydratase 1 deficiency | . | | | 33 | | |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | EHHADH CL E G H | 1962 | 3247 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0003287 | HP:0003647 | Electron transfer flavoprotein-ubiquinone oxidoreductase defect | 1 | ETFA CL E G H | 2108 | 3481 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | . | | | 37 | | |
HP:0003287 | HP:0003647 | Electron transfer flavoprotein-ubiquinone oxidoreductase defect | 1 | ETFB CL E G H | 2109 | 3482 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | . | | | 27 | | |
HP:0003287 | HP:0003647 | Electron transfer flavoprotein-ubiquinone oxidoreductase defect | 1 | ETFDH CL E G H | 2110 | 3483 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | . | | | 77 | | |
HP:0003287 | HP:0200125 | Mitochondrial respiratory chain defects | 1 | FBXL4 CL E G H | 26235 | 13601 | OMIM:615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | . | | | 384 | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | FOXRED1 CL E G H | 55572 | 26927 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 61 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | FOXRED1 CL E G H | 55572 | 26927 | ORPHA:2609 | Isolated complex I deficiency | | | | 61 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | FOXRED1 CL E G H | 55572 | 26927 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 61 | | |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | FOXRED1 CL E G H | 55572 | 26927 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 61 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | FOXRED1 CL E G H | 55572 | 26927 | OMIM:618241 | Mitochondrial complex I deficiency, nuclear type 19 | | | | 61 | | |
HP:0003287 | HP:0003232 | Mitochondrial malic enzyme reduced | 1 | FXN CL E G H | 2395 | 3951 | OMIM:229300 | Friedreich ataxia 1 | . | | | 18 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | GATC CL E G H | 283459 | 25068 | OMIM:618839 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42 | | | | 1 | | |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | GATM CL E G H | 2628 | 4175 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040282 - Frequent | | | 86 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | GFER CL E G H | 2671 | 4236 | OMIM:613076 | Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay | | | | 14 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | GFM1 CL E G H | 85476 | 13780 | OMIM:609060 | Combined oxidative phosphorylation deficiency 1 | | | | 85 | | |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | GLRX5 CL E G H | 51218 | 20134 | ORPHA:401866 | Childhood-onset spasticity with hyperglycinemia | HP:0040282 - Frequent | | | 17 | | |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | GLRX5 CL E G H | 51218 | 20134 | OMIM:616859 | Spasticity, childhood-onset, with hyperglycinemia | | | | 17 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | GTPBP3 CL E G H | 84705 | 14880 | ORPHA:444013 | Combined oxidative phosphorylation defect type 23 | | | | 30 | | |
HP:0003287 | HP:0100950 | Decreased 3-hydroxyacyl-CoA dehydrogenase level | 1 | HADH CL E G H | 3033 | 4799 | OMIM:231530 | 3-Hydroxyacyl-Coa dehydrogenase deficiency | . | | | 41 | | |
HP:0003287 | HP:0100950 | Decreased 3-hydroxyacyl-CoA dehydrogenase level | 1 | HADH CL E G H | 3033 | 4799 | ORPHA:71212 | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency | HP:0040280 - Obligate | | | 41 | | |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | HADH CL E G H | 3033 | 4799 | ORPHA:71212 | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 41 | | |
HP:0003287 | HP:0100950 | Decreased 3-hydroxyacyl-CoA dehydrogenase level | 1 | HADHA CL E G H | 3030 | 4801 | OMIM:609016 | Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency | . | | | 99 | | |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | HMGCL CL E G H | 3155 | 5005 | OMIM:246450 | 3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency | . | | | 35 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | IBA57 CL E G H | 200205 | 27302 | ORPHA:468661 | Autosomal recessive spastic paraplegia type 74 | | | | 16 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | ISCU CL E G H | 23479 | 29882 | OMIM:255125 | Myopathy with exercise intolerance, Swedish type | | | | 19 | | |
HP:0003287 | HP:0008306 | Abnormal iron deposition in mitochondria | 1 | ISCU CL E G H | 23479 | 29882 | OMIM:255125 | Myopathy with exercise intolerance, Swedish type | . | | | 19 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | KARS1 CL E G H | 3735 | 6215 | OMIM:619147 | LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID | | | | | | |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | LIPT1 CL E G H | 51601 | 29569 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 21 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | LIPT1 CL E G H | 51601 | 29569 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 21 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | LRPPRC CL E G H | 10128 | 15714 | ORPHA:70472 | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | | | | 191 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | LYRM7 CL E G H | 90624 | 28072 | OMIM:615838 | Mitochondrial complex III deficiency, nuclear type 8 | | | | 10 | | |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | MCCC2 CL E G H | 64087 | 6937 | OMIM:210210 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency | | | | 77 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | MECR CL E G H | 51102 | 19691 | ORPHA:508093 | MEPAN syndrome | | | | 6 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | MGME1 CL E G H | 92667 | 16205 | OMIM:615084 | Mitochondrial DNA depletion syndrome 11 | | | | 11 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | MIEF2 CL E G H | 125170 | 17920 | OMIM:619024 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49 | | | | | | |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | MMP1 CL E G H | 4312 | 7155 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | | | | 6 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | | | | 56 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | MRM2 CL E G H | 29960 | 16352 | OMIM:618567 | MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17 | | | | | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | MRPL12 CL E G H | 6182 | 10378 | OMIM:618951 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45 | | | | 11 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | MRPS14 CL E G H | 63931 | 14049 | OMIM:618378 | Combined oxidative phosphorylation deficiency 38 | | | | | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | MRPS16 CL E G H | 51021 | 14048 | OMIM:610498 | Combined oxidative phosphorylation deficiency 2 | | | | 60 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | MRPS23 CL E G H | 51649 | 14509 | OMIM:618952 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46; COXPD46 | | | | | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | MRPS25 CL E G H | 64432 | 14511 | OMIM:619025 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50 | | | | | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | MTFMT CL E G H | 123263 | 29666 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 29 | | |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | MTFMT CL E G H | 123263 | 29666 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 29 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | MTFMT CL E G H | 123263 | 29666 | OMIM:618248 | Mitochondrial complex I deficiency, nuclear type 27 | | | | 29 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | MTRFR CL E G H | 91574 | 26784 | OMIM:613559 | Combined oxidative phosphorylation deficiency 7 | | | | | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | MYH7 CL E G H | 4625 | 7577 | ORPHA:59135 | Laing early-onset distal myopathy | HP:0040282 - Frequent | | | 1269 | | |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | NADK2 CL E G H | 133686 | 26404 | OMIM:616034 | 2,4-Dienoyl-Coa reductase deficiency | | | | 14 | | |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | NADK2 CL E G H | 133686 | 26404 | ORPHA:431361 | Progressive encephalopathy with leukodystrophy due to DECR deficiency | HP:0040282 - Frequent | | | 14 | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:2609 | Isolated complex I deficiency | | | | | | |
HP:0003287 | HP:0200125 | Mitochondrial respiratory chain defects | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | ND2 CL E G H | 4536 | 7456 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | ND2 CL E G H | 4536 | 7456 | ORPHA:2609 | Isolated complex I deficiency | | | | | | |
HP:0003287 | HP:0200125 | Mitochondrial respiratory chain defects | 1 | ND2 CL E G H | 4536 | 7456 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | ND3 CL E G H | 4537 | 7458 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | ND3 CL E G H | 4537 | 7458 | ORPHA:2609 | Isolated complex I deficiency | | | | | | |
HP:0003287 | HP:0200125 | Mitochondrial respiratory chain defects | 1 | ND4 CL E G H | 4538 | 7459 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0003287 | HP:0200125 | Mitochondrial respiratory chain defects | 1 | ND4L CL E G H | 4539 | 7460 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0003287 | HP:0200125 | Mitochondrial respiratory chain defects | 1 | ND5 CL E G H | 4540 | 7461 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0003287 | HP:0200125 | Mitochondrial respiratory chain defects | 1 | ND6 CL E G H | 4541 | 7462 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFA1 CL E G H | 4694 | 7683 | ORPHA:2609 | Isolated complex I deficiency | | | | 7 | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | NDUFA1 CL E G H | 4694 | 7683 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 7 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFA10 CL E G H | 4705 | 7684 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 91 | | |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | NDUFA10 CL E G H | 4705 | 7684 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 91 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFA11 CL E G H | 126328 | 20371 | ORPHA:2609 | Isolated complex I deficiency | | | | 32 | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | NDUFA11 CL E G H | 126328 | 20371 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 32 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFA11 CL E G H | 126328 | 20371 | OMIM:618236 | Mitochondrial complex I deficiency, nuclear type 14 | | | | 32 | | |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | NDUFA12 CL E G H | 55967 | 23987 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 7 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFA12 CL E G H | 55967 | 23987 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 7 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFA12 CL E G H | 55967 | 23987 | OMIM:618244 | Mitochondrial complex I deficiency, nuclear type 23 | | | | 7 | | |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | NDUFA13 CL E G H | 51079 | 17194 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 3 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFA13 CL E G H | 51079 | 17194 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 3 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFA2 CL E G H | 4695 | 7685 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 19 | | |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | NDUFA2 CL E G H | 4695 | 7685 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 19 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFA4 CL E G H | 4697 | 7687 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 4 | | |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | NDUFA4 CL E G H | 4697 | 7687 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 4 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFA4 CL E G H | 4697 | 7687 | OMIM:619065 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21 | | | | 4 | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | NDUFA6 CL E G H | 4700 | 7690 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFA6 CL E G H | 4700 | 7690 | ORPHA:2609 | Isolated complex I deficiency | | | | 1 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFA6 CL E G H | 4700 | 7690 | OMIM:618253 | Mitochondrial complex I deficiency, nuclear type 33 | | | | 1 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFA8 CL E G H | 4702 | 7692 | OMIM:619272 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37 | | | | | | |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | NDUFA9 CL E G H | 4704 | 7693 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 27 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFA9 CL E G H | 4704 | 7693 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 27 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFA9 CL E G H | 4704 | 7693 | OMIM:618247 | Mitochondrial complex I deficiency, nuclear type 26 | | | | 27 | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | NDUFAF1 CL E G H | 51103 | 18828 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 40 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFAF1 CL E G H | 51103 | 18828 | ORPHA:2609 | Isolated complex I deficiency | | | | 40 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFAF2 CL E G H | 91942 | 28086 | ORPHA:2609 | Isolated complex I deficiency | | | | 26 | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | NDUFAF2 CL E G H | 91942 | 28086 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 26 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFAF2 CL E G H | 91942 | 28086 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 26 | | |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | NDUFAF2 CL E G H | 91942 | 28086 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 26 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:2609 | Isolated complex I deficiency | | | | 31 | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFAF3 CL E G H | 25915 | 29918 | OMIM:618240 | Mitochondrial complex I deficiency, nuclear type 18 | | | | 31 | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | NDUFAF4 CL E G H | 29078 | 21034 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 50 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFAF4 CL E G H | 29078 | 21034 | ORPHA:2609 | Isolated complex I deficiency | | | | 50 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFAF4 CL E G H | 29078 | 21034 | OMIM:618237 | Mitochondrial complex I deficiency, nuclear type 15 | | | | 50 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFAF5 CL E G H | 79133 | 15899 | ORPHA:2609 | Isolated complex I deficiency | | | | 34 | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | NDUFAF5 CL E G H | 79133 | 15899 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 34 | | |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | NDUFAF5 CL E G H | 79133 | 15899 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 34 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFAF5 CL E G H | 79133 | 15899 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 34 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFAF5 CL E G H | 79133 | 15899 | OMIM:618238 | Mitochondrial complex I deficiency, nuclear type 16 | | | | 34 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFAF6 CL E G H | 137682 | 28625 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 39 | | |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | NDUFAF6 CL E G H | 137682 | 28625 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 39 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFAF6 CL E G H | 137682 | 28625 | OMIM:618239 | Mitochondrial complex I deficiency, nuclear type 17 | | | | 39 | | |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | NDUFAF6 CL E G H | 137682 | 28625 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040282 - Frequent | | | 39 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFAF8 CL E G H | 284184 | 33551 | ORPHA:2609 | Isolated complex I deficiency | | | | | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | NDUFAF8 CL E G H | 284184 | 33551 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFAF8 CL E G H | 284184 | 33551 | OMIM:618776 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34 | | | | | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | NDUFB10 CL E G H | 4716 | 7696 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFB10 CL E G H | 4716 | 7696 | ORPHA:2609 | Isolated complex I deficiency | | | | | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFB10 CL E G H | 4716 | 7696 | OMIM:619003 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35 | | | | | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2609 | Isolated complex I deficiency | | | | 3 | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 3 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFB3 CL E G H | 4709 | 7698 | ORPHA:2609 | Isolated complex I deficiency | | | | 9 | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | NDUFB3 CL E G H | 4709 | 7698 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 9 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFB7 CL E G H | 4713 | 7702 | OMIM:620135 | | | | | | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | NDUFB9 CL E G H | 4715 | 7704 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 16 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFB9 CL E G H | 4715 | 7704 | ORPHA:2609 | Isolated complex I deficiency | | | | 16 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFB9 CL E G H | 4715 | 7704 | OMIM:618245 | Mitochondrial complex I deficiency, nuclear type 24 | | | | 16 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFC2 CL E G H | 4718 | 7706 | OMIM:619170 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36 | | | | | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFS1 CL E G H | 4719 | 7707 | ORPHA:2609 | Isolated complex I deficiency | | | | 81 | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | NDUFS1 CL E G H | 4719 | 7707 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 81 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFS1 CL E G H | 4719 | 7707 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 81 | | |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | NDUFS1 CL E G H | 4719 | 7707 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 81 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:2609 | Isolated complex I deficiency | | | | 65 | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 65 | | |
HP:0003287 | HP:0200125 | Mitochondrial respiratory chain defects | 1 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | 65 | | |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 65 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 65 | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | NDUFS3 CL E G H | 4722 | 7710 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 22 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFS3 CL E G H | 4722 | 7710 | ORPHA:2609 | Isolated complex I deficiency | | | | 22 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFS3 CL E G H | 4722 | 7710 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 22 | | |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | NDUFS3 CL E G H | 4722 | 7710 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 22 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFS3 CL E G H | 4722 | 7710 | OMIM:618230 | Mitochondrial complex I deficiency, nuclear type 8 | | | | 22 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFS4 CL E G H | 4724 | 7711 | ORPHA:2609 | Isolated complex I deficiency | | | | 27 | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | NDUFS4 CL E G H | 4724 | 7711 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 27 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFS4 CL E G H | 4724 | 7711 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 27 | | |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | NDUFS4 CL E G H | 4724 | 7711 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 27 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFS4 CL E G H | 4724 | 7711 | OMIM:252010 | Mitochondrial complex I deficiency, nuclear type 1 | | | | 27 | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | NDUFS6 CL E G H | 4726 | 7713 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 21 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFS6 CL E G H | 4726 | 7713 | ORPHA:2609 | Isolated complex I deficiency | | | | 21 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFS7 CL E G H | 374291 | 7714 | ORPHA:2609 | Isolated complex I deficiency | | | | 38 | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | NDUFS7 CL E G H | 374291 | 7714 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 38 | | |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | NDUFS7 CL E G H | 374291 | 7714 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 38 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFS7 CL E G H | 374291 | 7714 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 38 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFS8 CL E G H | 4728 | 7715 | ORPHA:2609 | Isolated complex I deficiency | | | | 42 | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | NDUFS8 CL E G H | 4728 | 7715 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 42 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFS8 CL E G H | 4728 | 7715 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 42 | | |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | NDUFS8 CL E G H | 4728 | 7715 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 42 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFS8 CL E G H | 4728 | 7715 | OMIM:618222 | Mitochondrial complex I deficiency, nuclear type 2 | | | | 42 | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | NDUFV1 CL E G H | 4723 | 7716 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 74 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFV1 CL E G H | 4723 | 7716 | ORPHA:2609 | Isolated complex I deficiency | | | | 74 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFV1 CL E G H | 4723 | 7716 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 74 | | |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | NDUFV1 CL E G H | 4723 | 7716 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 74 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFV1 CL E G H | 4723 | 7716 | OMIM:618225 | Mitochondrial complex I deficiency, nuclear type 4 | | | | 74 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFV2 CL E G H | 4729 | 7717 | ORPHA:2609 | Isolated complex I deficiency | | | | 27 | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | NDUFV2 CL E G H | 4729 | 7717 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 27 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NDUFV2 CL E G H | 4729 | 7717 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 27 | | |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | NDUFV2 CL E G H | 4729 | 7717 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 27 | | |
HP:0003287 | HP:0030059 | Mitochondrial depletion | 1 | NEB CL E G H | 4703 | 7720 | OMIM:256030 | Nemaline myopathy 2, autosomal recessive | . | | | 745 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NFS1 CL E G H | 9054 | 15910 | OMIM:619386 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52 | | | | 5 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NFU1 CL E G H | 27247 | 16287 | OMIM:605711 | Multiple mitochondrial dysfunctions syndrome 1 | | | | 34 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NSUN3 CL E G H | 63899 | 26208 | OMIM:619012 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48 | | | | | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | NUBPL CL E G H | 80224 | 20278 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 89 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NUBPL CL E G H | 80224 | 20278 | ORPHA:2609 | Isolated complex I deficiency | | | | 89 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | NUBPL CL E G H | 80224 | 20278 | OMIM:618242 | Mitochondrial complex I deficiency, nuclear type 21 | | | | 89 | | |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | PDHA1 CL E G H | 5160 | 8806 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 88 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | PDHA1 CL E G H | 5160 | 8806 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 88 | | |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | PDHA1 CL E G H | 5160 | 8806 | OMIM:312170 | Pyruvate dehydrogenase e1-alpha deficiency | . | | | 88 | | |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | PDHB CL E G H | 5162 | 8808 | ORPHA:255138 | Pyruvate dehydrogenase E1-beta deficiency | HP:0040282 - Frequent | | | 37 | | |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | PDHX CL E G H | 8050 | 21350 | ORPHA:255182 | Pyruvate dehydrogenase E3-binding protein deficiency | HP:0040282 - Frequent | | | 98 | | |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | PDHX CL E G H | 8050 | 21350 | OMIM:245349 | Pyruvate dehydrogenase e3-binding protein deficiency | . | | | 98 | | |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | PDP1 CL E G H | 54704 | 9279 | OMIM:608782 | Pyruvate dehydrogenase phosphatase deficiency | . | | | 52 | | |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | PDP1 CL E G H | 54704 | 9279 | ORPHA:79246 | Pyruvate dehydrogenase phosphatase deficiency | HP:0040281 - Very frequent | | | 52 | | |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | PET100 CL E G H | 100131801 | 40038 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 6 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | PET100 CL E G H | 100131801 | 40038 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 6 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | PET100 CL E G H | 100131801 | 40038 | OMIM:619055 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12 | | | | 6 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | PET117 CL E G H | 100303755 | 40045 | OMIM:619063 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19 | | | | | | |
HP:0003287 | HP:0200125 | Mitochondrial respiratory chain defects | 1 | PNPT1 CL E G H | 87178 | 23166 | ORPHA:319514 | Combined oxidative phosphorylation defect type 13 | HP:0040281 - Very frequent | | | 60 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | POLG CL E G H | 5428 | 9179 | OMIM:613662 | Mitochondrial DNA depletion syndrome 4B (mngie type) | | | | 464 | | |
HP:0003287 | HP:0200125 | Mitochondrial respiratory chain defects | 1 | PPM1B CL E G H | 5495 | 9276 | ORPHA:163693 | 2p21 microdeletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003287 | HP:0200125 | Mitochondrial respiratory chain defects | 1 | PREPL CL E G H | 9581 | 30228 | ORPHA:163693 | 2p21 microdeletion syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | PTCD3 CL E G H | 55037 | 24717 | OMIM:619057 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51 | | | | | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | QRSL1 CL E G H | 55278 | 21020 | OMIM:618835 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40 | | | | | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | RARS2 CL E G H | 57038 | 21406 | OMIM:611523 | Pontocerebellar hypoplasia, type 6 | | | | 93 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | RRM2B CL E G H | 50484 | 17296 | OMIM:612075 | Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) | | | | 125 | | |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | SCO1 CL E G H | 6341 | 10603 | OMIM:619048 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4 | | | | 46 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | SCO2 CL E G H | 9997 | 10604 | OMIM:604377 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | | | | 40 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | SDHA CL E G H | 6389 | 10680 | OMIM:613642 | Cardiomyopathy, dilated, 1gg | | | | 304 | | |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | SDHA CL E G H | 6389 | 10680 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 304 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | SDHA CL E G H | 6389 | 10680 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 304 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | SDHA CL E G H | 6389 | 10680 | OMIM:252011 | Mitochondrial complex II deficiency | | | | 304 | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | SDHA CL E G H | 6389 | 10680 | OMIM:252011 | Mitochondrial complex II deficiency | . | | | 304 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | SDHB CL E G H | 6390 | 10681 | OMIM:619224 | MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4 | | | | 237 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | SDHD CL E G H | 6392 | 10683 | OMIM:619167 | MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3 | | | | 129 | | |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | SLC19A3 CL E G H | 80704 | 16266 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 110 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | SLC19A3 CL E G H | 80704 | 16266 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 110 | | |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | SLC22A5 CL E G H | 6584 | 10969 | OMIM:212140 | Carnitine deficiency, systemic primary | . | | | 207 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | SLC25A10 CL E G H | 1468 | 10980 | OMIM:618972 | MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19 | | | | | | |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | SLC25A20 CL E G H | 788 | 1421 | ORPHA:159 | Carnitine-acylcarnitine translocase deficiency | HP:0040281 - Very frequent | | | 40 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | SLC25A26 CL E G H | 115286 | 20661 | OMIM:616794 | Combined oxidative phosphorylation deficiency 28 | | | | 5 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | SLC25A4 CL E G H | 291 | 10990 | OMIM:615418 | Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) | | | | 68 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | SLC25A4 CL E G H | 291 | 10990 | OMIM:617184 | Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant | | | | 68 | | |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | SLC34A1 CL E G H | 6569 | 11019 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040282 - Frequent | | | 47 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | SLC39A8 CL E G H | 64116 | 20862 | ORPHA:468699 | SLC39A8-CDG | | | | 11 | | |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | SLC39A8 CL E G H | 64116 | 20862 | ORPHA:468699 | SLC39A8-CDG | HP:0040283 - Occasional | | | 11 | | |
HP:0003287 | HP:0200125 | Mitochondrial respiratory chain defects | 1 | SLC3A1 CL E G H | 6519 | 11025 | ORPHA:163693 | 2p21 microdeletion syndrome | HP:0040281 - Very frequent | | | 55 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | SUCLA2 CL E G H | 8803 | 11448 | OMIM:612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | | | | 66 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | SUCLG1 CL E G H | 8802 | 11449 | ORPHA:17 | Fatal infantile lactic acidosis with methylmalonic aciduria | | | | 60 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | SUCLG1 CL E G H | 8802 | 11449 | OMIM:245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) | | | | 60 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | SURF1 CL E G H | 6834 | 11474 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 73 | | |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | SURF1 CL E G H | 6834 | 11474 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 73 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | TACO1 CL E G H | 51204 | 24316 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 23 | | |
HP:0003287 | HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 1 | TACO1 CL E G H | 51204 | 24316 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 23 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | TIMM22 CL E G H | 29928 | 17317 | OMIM:618851 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43 | | | | | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | TIMM50 CL E G H | 92609 | 23656 | ORPHA:505216 | 3-methylglutaconic aciduria type 9 | | | | 1 | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | TIMMDC1 CL E G H | 51300 | 1321 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | TIMMDC1 CL E G H | 51300 | 1321 | ORPHA:2609 | Isolated complex I deficiency | | | | 1 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | TIMMDC1 CL E G H | 51300 | 1321 | OMIM:618251 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31 | | | | 1 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | TK2 CL E G H | 7084 | 11831 | OMIM:609560 | Mitochondrial DNA depletion syndrome 2 (myopathic type) | | | | 103 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | TK2 CL E G H | 7084 | 11831 | OMIM:617069 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | | | | 103 | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | TMEM126B CL E G H | 55863 | 30883 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 4 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | TMEM126B CL E G H | 55863 | 30883 | ORPHA:2609 | Isolated complex I deficiency | | | | 4 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | TMEM70 CL E G H | 54968 | 26050 | OMIM:614052 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 2 | | | | 63 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | TRIT1 CL E G H | 54802 | 20286 | OMIM:617873 | Combined oxidative phosphorylation deficiency 35 | | | | 12 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | TRMT5 CL E G H | 57570 | 23141 | OMIM:616539 | Combined oxidative phosphorylation deficiency 26 | HP:0040280 - Obligate | | | 4 | | |
HP:0003287 | HP:0200125 | Mitochondrial respiratory chain defects | 1 | TRMU CL E G H | 55687 | 25481 | OMIM:613070 | Liver failure, infantile, transient | . | | | 101 | | |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | TRMU CL E G H | 55687 | 25481 | ORPHA:254864 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | HP:0040283 - Occasional | | | 101 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | TRMU CL E G H | 55687 | 25481 | ORPHA:254864 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | | | | 101 | | |
HP:0003287 | HP:0003234 | Decreased plasma carnitine | 1 | TRNE CL E G H | 4556 | 7479 | ORPHA:254864 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | HP:0040283 - Occasional | | | | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | TRNE CL E G H | 4556 | 7479 | ORPHA:254864 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | | | | | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | HP:0040282 - Frequent | | | | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | TRNL2 CL E G H | 4568 | 7491 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | HP:0040282 - Frequent | | | | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | TRNN CL E G H | 4570 | 7493 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | HP:0040282 - Frequent | | | | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | HP:0040282 - Frequent | | | | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0003287 | HP:0008316 | Abnormal mitochondria in muscle tissue | 1 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | TSFM CL E G H | 10102 | 12367 | OMIM:610505 | Combined oxidative phosphorylation deficiency 3 | | | | 43 | | |
HP:0003287 | HP:0030059 | Mitochondrial depletion | 1 | TTN CL E G H | 7273 | 12403 | OMIM:611705 | Salih myopathy | . | | | 7128 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | TXN2 CL E G H | 25828 | 17772 | ORPHA:478029 | Combined oxidative phosphorylation defect type 29 | | | | 1 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | TXN2 CL E G H | 25828 | 17772 | OMIM:616811 | Combined oxidative phosphorylation deficiency 29 | | | | 1 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | UQCC2 CL E G H | 84300 | 21237 | OMIM:615824 | Mitochondrial complex III deficiency, nuclear type 7 | | | | 7 | | |
HP:0003287 | HP:0011922 | Abnormal activity of mitochondrial respiratory chain | 1 | VARS2 CL E G H | 57176 | 21642 | OMIM:615917 | Combined oxidative phosphorylation deficiency 20 | | | | 56 | | |
HP:0003287 | HP:0040015 | Increased activity of mitochondrial respiratory chain | 2 | CL E G H | | | | | | | | | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | AARS2 CL E G H | 57505 | 21022 | OMIM:614096 | Combined oxidative phosphorylation deficiency 8 | | | | 143 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | ACAD9 CL E G H | 28976 | 21497 | ORPHA:99901 | Acyl-CoA dehydrogenase 9 deficiency | | | | 98 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | ACAD9 CL E G H | 28976 | 21497 | OMIM:611126 | Mitochondrial complex I deficiency due to acad9 deficiency | | | | 98 | | |
HP:0003287 | HP:0011936 | Decreased plasma total carnitine | 2 | ACADM CL E G H | 34 | 89 | ORPHA:42 | Medium chain acyl-CoA dehydrogenase deficiency | HP:0040282 - Frequent | | | 197 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300816 | Combined oxidative phosphorylation deficiency 6 | | | | 60 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | ATP5F1D CL E G H | 513 | 837 | OMIM:618120 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 5 | | | | | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | ATP5F1E CL E G H | 514 | 838 | OMIM:614053 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 3 | | | | | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | ATPAF2 CL E G H | 91647 | 18802 | OMIM:604273 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 1 | | | | 32 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | BCS1L CL E G H | 617 | 1020 | OMIM:124000 | Mitochondrial complex III deficiency, nuclear type 1 | | | | 72 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | BOLA3 CL E G H | 388962 | 24415 | OMIM:614299 | Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia | . | | | 14 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | CARS2 CL E G H | 79587 | 25695 | ORPHA:477774 | Combined oxidative phosphorylation defect type 27 | | | | 35 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | CARS2 CL E G H | 79587 | 25695 | OMIM:616672 | Combined oxidative phosphorylation deficiency 27 | | | | 35 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:616209 | Myopathy, isolated mitochondrial, autosomal dominant | | | | 11 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | COA3 CL E G H | 28958 | 24990 | OMIM:619058 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14 | | | | 2 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | COA5 CL E G H | 493753 | 33848 | OMIM:616500 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 | | | | 2 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | COA6 CL E G H | 388753 | 18025 | OMIM:616501 | CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4 | | | | 8 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | COA8 CL E G H | 84334 | 20492 | OMIM:619061 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17 | | | | | | |
HP:0003287 | HP:0011936 | Decreased plasma total carnitine | 2 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | HP:0040283 - Occasional | | | 263 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | COX15 CL E G H | 1355 | 2263 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 104 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | COX16 CL E G H | 51241 | 20213 | OMIM:619355 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22 | | | | | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | COX20 CL E G H | 116228 | 26970 | OMIM:619054 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11 | | | | 25 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | COX4I1 CL E G H | 1327 | 2265 | OMIM:619060 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16 | | | | | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | COX5A CL E G H | 9377 | 2267 | OMIM:619064 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20 | | | | | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | COX6A2 CL E G H | 1339 | 2279 | OMIM:619062 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18 | | | | | | |
HP:0003287 | HP:0008315 | Decreased plasma free carnitine | 2 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228308 | Carnitine palmitoyl transferase II deficiency, neonatal form | HP:0040281 - Very frequent | | | 101 | | |
HP:0003287 | HP:0011936 | Decreased plasma total carnitine | 2 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228308 | Carnitine palmitoyl transferase II deficiency, neonatal form | HP:0040281 - Very frequent | | | 101 | | |
HP:0003287 | HP:0008315 | Decreased plasma free carnitine | 2 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228305 | Carnitine palmitoyl transferase II deficiency, severe infantile form | HP:0040282 - Frequent | | | 101 | | |
HP:0003287 | HP:0011936 | Decreased plasma total carnitine | 2 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228305 | Carnitine palmitoyl transferase II deficiency, severe infantile form | HP:0040282 - Frequent | | | 101 | | |
HP:0003287 | HP:0008315 | Decreased plasma free carnitine | 2 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | . | | | 101 | | |
HP:0003287 | HP:0011936 | Decreased plasma total carnitine | 2 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | . | | | 101 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | CYC1 CL E G H | 1537 | 2579 | OMIM:615453 | Mitochondrial complex III deficiency, nuclear type 6 | | | | 12 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | DGUOK CL E G H | 1716 | 2858 | OMIM:251880 | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | . | | | 57 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | EARS2 CL E G H | 124454 | 29419 | OMIM:614924 | Combined oxidative phosphorylation deficiency 12 | | | | 80 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | ECHS1 CL E G H | 1892 | 3151 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 33 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | FOXRED1 CL E G H | 55572 | 26927 | ORPHA:2609 | Isolated complex I deficiency | | | | 61 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | FOXRED1 CL E G H | 55572 | 26927 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 61 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | FOXRED1 CL E G H | 55572 | 26927 | OMIM:618241 | Mitochondrial complex I deficiency, nuclear type 19 | | | | 61 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | GATC CL E G H | 283459 | 25068 | OMIM:618839 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42 | | | | 1 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | GFER CL E G H | 2671 | 4236 | OMIM:613076 | Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay | | | | 14 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | GFM1 CL E G H | 85476 | 13780 | OMIM:609060 | Combined oxidative phosphorylation deficiency 1 | | | | 85 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | GTPBP3 CL E G H | 84705 | 14880 | ORPHA:444013 | Combined oxidative phosphorylation defect type 23 | | | | 30 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | IBA57 CL E G H | 200205 | 27302 | ORPHA:468661 | Autosomal recessive spastic paraplegia type 74 | | | | 16 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | ISCU CL E G H | 23479 | 29882 | OMIM:255125 | Myopathy with exercise intolerance, Swedish type | | | | 19 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | KARS1 CL E G H | 3735 | 6215 | OMIM:619147 | LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID | | | | | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | LIPT1 CL E G H | 51601 | 29569 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 21 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | LRPPRC CL E G H | 10128 | 15714 | ORPHA:70472 | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | | | | 191 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | LYRM7 CL E G H | 90624 | 28072 | OMIM:615838 | Mitochondrial complex III deficiency, nuclear type 8 | | | | 10 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | MECR CL E G H | 51102 | 19691 | ORPHA:508093 | MEPAN syndrome | | | | 6 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | MGME1 CL E G H | 92667 | 16205 | OMIM:615084 | Mitochondrial DNA depletion syndrome 11 | | | | 11 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | MIEF2 CL E G H | 125170 | 17920 | OMIM:619024 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49 | | | | | | |
HP:0003287 | HP:0011936 | Decreased plasma total carnitine | 2 | MMP1 CL E G H | 4312 | 7155 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | HP:0040283 - Occasional | | | 6 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | | | | 56 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | MRM2 CL E G H | 29960 | 16352 | OMIM:618567 | MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17 | | | | | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | MRPL12 CL E G H | 6182 | 10378 | OMIM:618951 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45 | | | | 11 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | MRPS14 CL E G H | 63931 | 14049 | OMIM:618378 | Combined oxidative phosphorylation deficiency 38 | | | | | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | MRPS16 CL E G H | 51021 | 14048 | OMIM:610498 | Combined oxidative phosphorylation deficiency 2 | | | | 60 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | MRPS23 CL E G H | 51649 | 14509 | OMIM:618952 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46; COXPD46 | | | | | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | MRPS25 CL E G H | 64432 | 14511 | OMIM:619025 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50 | | | | | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | MTFMT CL E G H | 123263 | 29666 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 29 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | MTFMT CL E G H | 123263 | 29666 | OMIM:618248 | Mitochondrial complex I deficiency, nuclear type 27 | | | | 29 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | MTRFR CL E G H | 91574 | 26784 | OMIM:613559 | Combined oxidative phosphorylation deficiency 7 | | | | | | |
HP:0003287 | HP:0008315 | Decreased plasma free carnitine | 2 | NADK2 CL E G H | 133686 | 26404 | OMIM:616034 | 2,4-Dienoyl-Coa reductase deficiency | . | | | 14 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | ND1 CL E G H | 4535 | 7455 | ORPHA:2609 | Isolated complex I deficiency | | | | | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | ND2 CL E G H | 4536 | 7456 | ORPHA:2609 | Isolated complex I deficiency | | | | | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | ND3 CL E G H | 4537 | 7458 | ORPHA:2609 | Isolated complex I deficiency | | | | | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFA1 CL E G H | 4694 | 7683 | ORPHA:2609 | Isolated complex I deficiency | | | | 7 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFA10 CL E G H | 4705 | 7684 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 91 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFA11 CL E G H | 126328 | 20371 | ORPHA:2609 | Isolated complex I deficiency | | | | 32 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFA11 CL E G H | 126328 | 20371 | OMIM:618236 | Mitochondrial complex I deficiency, nuclear type 14 | | | | 32 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFA12 CL E G H | 55967 | 23987 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 7 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFA12 CL E G H | 55967 | 23987 | OMIM:618244 | Mitochondrial complex I deficiency, nuclear type 23 | | | | 7 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFA13 CL E G H | 51079 | 17194 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 3 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFA2 CL E G H | 4695 | 7685 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 19 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFA4 CL E G H | 4697 | 7687 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 4 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFA4 CL E G H | 4697 | 7687 | OMIM:619065 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21 | | | | 4 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFA6 CL E G H | 4700 | 7690 | ORPHA:2609 | Isolated complex I deficiency | | | | 1 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFA6 CL E G H | 4700 | 7690 | OMIM:618253 | Mitochondrial complex I deficiency, nuclear type 33 | | | | 1 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFA8 CL E G H | 4702 | 7692 | OMIM:619272 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37 | | | | | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFA9 CL E G H | 4704 | 7693 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 27 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFA9 CL E G H | 4704 | 7693 | OMIM:618247 | Mitochondrial complex I deficiency, nuclear type 26 | | | | 27 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFAF1 CL E G H | 51103 | 18828 | ORPHA:2609 | Isolated complex I deficiency | | | | 40 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFAF2 CL E G H | 91942 | 28086 | ORPHA:2609 | Isolated complex I deficiency | | | | 26 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFAF2 CL E G H | 91942 | 28086 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 26 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:2609 | Isolated complex I deficiency | | | | 31 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFAF3 CL E G H | 25915 | 29918 | OMIM:618240 | Mitochondrial complex I deficiency, nuclear type 18 | | | | 31 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFAF4 CL E G H | 29078 | 21034 | ORPHA:2609 | Isolated complex I deficiency | | | | 50 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFAF4 CL E G H | 29078 | 21034 | OMIM:618237 | Mitochondrial complex I deficiency, nuclear type 15 | | | | 50 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFAF5 CL E G H | 79133 | 15899 | ORPHA:2609 | Isolated complex I deficiency | | | | 34 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFAF5 CL E G H | 79133 | 15899 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 34 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFAF5 CL E G H | 79133 | 15899 | OMIM:618238 | Mitochondrial complex I deficiency, nuclear type 16 | | | | 34 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFAF6 CL E G H | 137682 | 28625 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 39 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFAF6 CL E G H | 137682 | 28625 | OMIM:618239 | Mitochondrial complex I deficiency, nuclear type 17 | | | | 39 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFAF8 CL E G H | 284184 | 33551 | ORPHA:2609 | Isolated complex I deficiency | | | | | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFAF8 CL E G H | 284184 | 33551 | OMIM:618776 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34 | | | | | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFB10 CL E G H | 4716 | 7696 | ORPHA:2609 | Isolated complex I deficiency | | | | | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFB10 CL E G H | 4716 | 7696 | OMIM:619003 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35 | | | | | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2609 | Isolated complex I deficiency | | | | 3 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFB3 CL E G H | 4709 | 7698 | ORPHA:2609 | Isolated complex I deficiency | | | | 9 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFB7 CL E G H | 4713 | 7702 | OMIM:620135 | | | | | | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFB9 CL E G H | 4715 | 7704 | ORPHA:2609 | Isolated complex I deficiency | | | | 16 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFB9 CL E G H | 4715 | 7704 | OMIM:618245 | Mitochondrial complex I deficiency, nuclear type 24 | | | | 16 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFC2 CL E G H | 4718 | 7706 | OMIM:619170 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36 | | | | | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFS1 CL E G H | 4719 | 7707 | ORPHA:2609 | Isolated complex I deficiency | | | | 81 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFS1 CL E G H | 4719 | 7707 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 81 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:2609 | Isolated complex I deficiency | | | | 65 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 65 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFS3 CL E G H | 4722 | 7710 | ORPHA:2609 | Isolated complex I deficiency | | | | 22 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFS3 CL E G H | 4722 | 7710 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 22 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFS3 CL E G H | 4722 | 7710 | OMIM:618230 | Mitochondrial complex I deficiency, nuclear type 8 | | | | 22 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFS4 CL E G H | 4724 | 7711 | ORPHA:2609 | Isolated complex I deficiency | | | | 27 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFS4 CL E G H | 4724 | 7711 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 27 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFS4 CL E G H | 4724 | 7711 | OMIM:252010 | Mitochondrial complex I deficiency, nuclear type 1 | | | | 27 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFS6 CL E G H | 4726 | 7713 | ORPHA:2609 | Isolated complex I deficiency | | | | 21 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFS7 CL E G H | 374291 | 7714 | ORPHA:2609 | Isolated complex I deficiency | | | | 38 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFS7 CL E G H | 374291 | 7714 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 38 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFS8 CL E G H | 4728 | 7715 | ORPHA:2609 | Isolated complex I deficiency | | | | 42 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFS8 CL E G H | 4728 | 7715 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 42 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFS8 CL E G H | 4728 | 7715 | OMIM:618222 | Mitochondrial complex I deficiency, nuclear type 2 | | | | 42 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFV1 CL E G H | 4723 | 7716 | ORPHA:2609 | Isolated complex I deficiency | | | | 74 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFV1 CL E G H | 4723 | 7716 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 74 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFV1 CL E G H | 4723 | 7716 | OMIM:618225 | Mitochondrial complex I deficiency, nuclear type 4 | | | | 74 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFV2 CL E G H | 4729 | 7717 | ORPHA:2609 | Isolated complex I deficiency | | | | 27 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NDUFV2 CL E G H | 4729 | 7717 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 27 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NFS1 CL E G H | 9054 | 15910 | OMIM:619386 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52 | | | | 5 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NFU1 CL E G H | 27247 | 16287 | OMIM:605711 | Multiple mitochondrial dysfunctions syndrome 1 | . | | | 34 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NSUN3 CL E G H | 63899 | 26208 | OMIM:619012 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48 | | | | | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NUBPL CL E G H | 80224 | 20278 | ORPHA:2609 | Isolated complex I deficiency | | | | 89 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | NUBPL CL E G H | 80224 | 20278 | OMIM:618242 | Mitochondrial complex I deficiency, nuclear type 21 | | | | 89 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | PDHA1 CL E G H | 5160 | 8806 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 88 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | PET100 CL E G H | 100131801 | 40038 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 6 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | PET100 CL E G H | 100131801 | 40038 | OMIM:619055 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12 | | | | 6 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | PET117 CL E G H | 100303755 | 40045 | OMIM:619063 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19 | | | | | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | POLG CL E G H | 5428 | 9179 | OMIM:613662 | Mitochondrial DNA depletion syndrome 4B (mngie type) | | | | 464 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | PTCD3 CL E G H | 55037 | 24717 | OMIM:619057 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51 | | | | | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | QRSL1 CL E G H | 55278 | 21020 | OMIM:618835 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40 | | | | | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | RARS2 CL E G H | 57038 | 21406 | OMIM:611523 | Pontocerebellar hypoplasia, type 6 | | | | 93 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | RRM2B CL E G H | 50484 | 17296 | OMIM:612075 | Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) | | | | 125 | | |
HP:0003287 | HP:0008315 | Decreased plasma free carnitine | 2 | SCO1 CL E G H | 6341 | 10603 | OMIM:619048 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4 | | | | 46 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | SCO2 CL E G H | 9997 | 10604 | OMIM:604377 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | | | | 40 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | SDHA CL E G H | 6389 | 10680 | OMIM:613642 | Cardiomyopathy, dilated, 1gg | | | | 304 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | SDHA CL E G H | 6389 | 10680 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 304 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | SDHA CL E G H | 6389 | 10680 | OMIM:252011 | Mitochondrial complex II deficiency | | | | 304 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | SDHB CL E G H | 6390 | 10681 | OMIM:619224 | MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4 | | | | 237 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | SDHD CL E G H | 6392 | 10683 | OMIM:619167 | MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3 | | | | 129 | | |
HP:0003287 | HP:0008972 | Decreased activity of mitochondrial respiratory chain | 2 | SLC19A3 CL E G H | 80704 | 16266 | ORPHA:255241 | Leigh synd |