Choose a Mitochondrial Disease for the MSeqDR Annotations: 1 MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency... HP:6 ND: 1 2 MONDO:0017359 3-methylglutaconic aciduria... HP:0 ND: 0 3 MONDO:0009610 3-methylglutaconic aciduria type 1... HP:0 ND: 0 4 MONDO:0009787 3-methylglutaconic aciduria type 3... HP:0 ND: 0 5 MONDO:0012435 3-methylglutaconic aciduria type 5... HP:47 ND: 9 6 MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, a... HP:29 ND: 8 7 MONDO:0024306 acquired lactic acidosis... HP:0 ND: 0 8 MONDO:0013111 acute infantile liver failure due to synthesis defect of mtD... HP:16 ND: 1 9 MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency... HP:36 ND: 9 10 MONDO:0018002 adult-onset chronic progressive external ophthalmoplegia wit... HP:0 ND: 0 11 MONDO:0014899 adult-onset multiple mitochondrial DNA deletion syndrome due... HP:33 ND: 10 12 MONDO:0012996 AGAT deficiency... HP:8 ND: 4 13 MONDO:0012454 alcohol sensitivity, acute... HP:2 ND: 0 14 MONDO:0010783 Alzheimer disease, susceptibility to, mitochondrial... HP:0 ND: 0 15 MONDO:0011790 Amish lethal microcephaly... HP:30 ND: 1 16 MONDO:0010781 ataxia and polyneuropathy, adult-onset... HP:0 ND: 0 17 MONDO:0014532 autosomal dominant mitochondrial myopathy with exercise into... HP:0 ND: 0 18 MONDO:0008134 autosomal dominant optic atrophy, classic form... HP:1 ND: 0 19 MONDO:0008003 autosomal dominant progressive external ophthalmoplegia... HP:0 ND: 0 20 MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency... HP:31 ND: 10 21 MONDO:0007749 autosomal recessive infantile hypercalcemia... HP:0 ND: 0 22 MONDO:0009076 autosomal recessive nonsyndromic deafness 1A... HP:0 ND: 0 23 MONDO:0010543 Barth syndrome... HP:28 ND: 5 24 MONDO:0008760 beta-ketothiolase deficiency... HP:0 ND: 0 25 MONDO:0009872 Bjornstad syndrome... HP:1 ND: 0 26 MONDO:0044655 c12orf65-related combined oxidative phosphorylation defect... HP:0 ND: 0 27 MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease... HP:0 ND: 0 28 MONDO:0011451 cardioencephalomyopathy, fatal infantile, due to cytochrome ... HP:13 ND: 4 29 MONDO:0014051 cardioencephalomyopathy, fatal infantile, due to cytochrome ... HP:8 ND: 3 30 MONDO:0014667 cardioencephalomyopathy, fatal infantile, due to cytochrome ... HP:1 ND: 1 31 MONDO:0014668 cardioencephalomyopathy, fatal infantile, due to cytochrome ... HP:5 ND: 2 32 MONDO:0010777 cardiomyopathy, infantile hypertrophic... HP:0 ND: 0 33 MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome... HP:13 ND: 3 34 MONDO:0008920 carnitine deficiency, myopathic... HP:0 ND: 0 35 MONDO:0009705 carnitine palmitoyl transferase 1A deficiency... HP:0 ND: 0 36 MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic for... HP:0 ND: 0 37 MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form... HP:64 ND: 6 38 MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infant... HP:17 ND: 5 39 MONDO:0015515 carnitine palmitoyltransferase II deficiency... HP:0 ND: 0 40 MONDO:0008918 carnitine-acylcarnitine translocase deficiency... HP:0 ND: 0 41 MONDO:0012231 Charcot-Marie-Tooth disease type 2A2... HP:62 ND: 4 42 MONDO:0010784 chloramphenicol toxicity... HP:1 ND: 0 43 MONDO:0010786 chronic diarrhea with villous atrophy... HP:0 ND: 0 44 MONDO:0011326 citrullinemia, type II, adult-onset... HP:9 ND: 1 45 MONDO:0011829 coenzyme Q10 deficiency, primary, 1... HP:27 ND: 6 46 MONDO:0013838 coenzyme Q10 deficiency, primary, 3... HP:8 ND: 2 47 MONDO:0013969 combined oxidative phosphorylation defect type 11... HP:31 ND: 7 48 MONDO:0013977 combined oxidative phosphorylation defect type 13... HP:14 ND: 4 49 MONDO:0013986 combined oxidative phosphorylation defect type 14... HP:22 ND: 6 50 MONDO:0013987 combined oxidative phosphorylation defect type 15... HP:25 ND: 8 51 MONDO:0014190 combined oxidative phosphorylation defect type 17... HP:10 ND: 5 52 MONDO:0012510 combined oxidative phosphorylation defect type 2... HP:16 ND: 1 53 MONDO:0014397 combined oxidative phosphorylation defect type 20... HP:9 ND: 5 54 MONDO:0014398 combined oxidative phosphorylation defect type 21... HP:7 ND: 3 55 MONDO:0014525 combined oxidative phosphorylation defect type 23... HP:0 ND: 0 56 MONDO:0014547 combined oxidative phosphorylation defect type 24... HP:0 ND: 0 57 MONDO:0014636 combined oxidative phosphorylation defect type 25... HP:17 ND: 4 58 MONDO:0014684 combined oxidative phosphorylation defect type 26... HP:21 ND: 8 59 MONDO:0014728 combined oxidative phosphorylation defect type 27... HP:22 ND: 5 60 MONDO:0014856 combined oxidative phosphorylation defect type 30... HP:11 ND: 0 61 MONDO:0012534 combined oxidative phosphorylation defect type 4... HP:16 ND: 3 62 MONDO:0013306 combined oxidative phosphorylation defect type 7... HP:22 ND: 6 63 MONDO:0013570 combined oxidative phosphorylation defect type 8... HP:7 ND: 1 64 MONDO:0013811 combined oxidative phosphorylation defect type 9... HP:9 ND: 4 65 MONDO:0000732 combined oxidative phosphorylation deficiency... HP:0 ND: 0 66 MONDO:0014269 combined oxidative phosphorylation deficiency 19... HP:6 ND: 2 67 MONDO:0020727 combined oxidative phosphorylation deficiency 22... HP:10 ND: 3 68 MONDO:0014781 combined oxidative phosphorylation deficiency 29... HP:21 ND: 6 69 MONDO:0054654 combined oxidative phosphorylation deficiency 32... HP:24 ND: 6 70 MONDO:0054677 combined oxidative phosphorylation deficiency 33... HP:19 ND: 6 71 MONDO:0054741 combined oxidative phosphorylation deficiency 34... HP:10 ND: 2 72 MONDO:0054742 combined oxidative phosphorylation deficiency 35... HP:16 ND: 6 73 MONDO:0054781 combined oxidative phosphorylation deficiency 36... HP:8 ND: 3 74 MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidor... HP:65 ND: 2 75 MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing l... HP:16 ND: 7 76 MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type... HP:0 ND: 0 77 MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia... HP:0 ND: 0 78 MONDO:0011978 CoQ-responsive OXPHOS deficiency... HP:0 ND: 0 79 MONDO:0010778 cyclic vomiting syndrome... HP:24 ND: 10 80 MONDO:0009068 cytochrome-c oxidase deficiency disease... HP:0 ND: 0 81 MONDO:0014072 D,L-2-hydroxyglutaric aciduria... HP:18 ND: 5 82 MONDO:0013345 d-2-hydroxyglutaric aciduria 2... HP:5 ND: 4 83 MONDO:0010578 deafness dystonia syndrome... HP:51 ND: 8 84 MONDO:0009090 deafness, sensorineural, autosomal-mitochondrial type... HP:0 ND: 0 85 MONDO:0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome... HP:11 ND: 0 86 MONDO:0007455 diabetes mellitus, noninsulin-dependent... HP:3 ND: 0 87 MONDO:0013339 dilated cardiomyopathy 1GG... HP:1 ND: 1 88 MONDO:0012148 drug metabolism, poor, CYP2D6-related... HP:2 ND: 0 89 MONDO:0013793 encephalomyopathy, mitochondrial, due to voltage-dependent a... HP:22 ND: 4 90 MONDO:0054865 encephalopathy due to defective mitochondrial and peroxisoma... HP:0 ND: 0 91 MONDO:0060562 encephalopathy, neonatal severe, with lactic acidosis and br... HP:19 ND: 3 92 MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular dis... HP:20 ND: 8 93 MONDO:0013056 epileptic encephalopathy with global cerebral demyelination... HP:9 ND: 5 94 MONDO:0012245 epileptic encephalopathy, early infantile, 3... HP:9 ND: 3 95 MONDO:0011229 ethylmalonic encephalopathy... HP:25 ND: 6 96 MONDO:0010080 familial infantile bilateral striatal necrosis... HP:38 ND: 7 97 MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorine... HP:6 ND: 4 98 MONDO:0015632 FASTKD2-related infantile mitochondrial encephalomyopathy... HP:0 ND: 0 99 MONDO:0015487 fatal infantile encephalocardiomyopathy... HP:0 ND: 0 100 MONDO:0017336 fatal infantile hypertrophic cardiomyopathy due to mitochond... HP:0 ND: 0 101 MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosph... HP:30 ND: 11 102 MONDO:0017338 fatal multiple mitochondrial dysfunctions syndrome... HP:0 ND: 0 103 MONDO:0009245 Friedreich ataxia... HP:0 ND: 0 104 MONDO:0011612 glycine encephalopathy... HP:27 ND: 5 105 MONDO:0011308 gracile syndrome... HP:15 ND: 3 106 MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochr... HP:0 ND: 0 107 MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochr... HP:0 ND: 0 108 MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochr... HP:0 ND: 0 109 MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochr... HP:6 ND: 0 110 MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-l... HP:13 ND: 2 111 MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylati... HP:21 ND: 3 112 MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficie... HP:0 ND: 0 113 MONDO:0014020 hereditary spastic paraplegia 55... HP:38 ND: 8 114 MONDO:0011803 hereditary spastic paraplegia 7... HP:38 ND: 4 115 MONDO:0010771 histiocytoid cardiomyopathy... HP:0 ND: 0 116 MONDO:0010327 HSD10 disease... HP:26 ND: 9 117 MONDO:0014869 hydrops-lactic acidosis-sideroblastic anemia-multisystemic f... HP:13 ND: 3 118 MONDO:0009278 hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydr... HP:0 ND: 0 119 MONDO:0009389 hyperlysinemia due to defect in lysine transport into mitoch... HP:0 ND: 0 120 MONDO:0009391 hypermetabolism due to defect in mitochondria... HP:0 ND: 0 121 MONDO:0017933 hypertrophic cardiomyopathy and renal tubular disease due to... HP:0 ND: 0 122 MONDO:0010776 hypomagnesemia, hypertension, and hypercholesterolemia, mito... HP:0 ND: 0 123 MONDO:0012824 hypomyelinating leukodystrophy 4... HP:16 ND: 5 124 MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia... HP:21 ND: 4 125 MONDO:0011669 hypotonia-cystinuria syndrome... HP:0 ND: 0 126 MONDO:0004069 inborn mitochondrial metabolism disorder... HP:0 ND: 0 127 MONDO:0009637 inborn mitochondrial myopathy... HP:0 ND: 0 128 MONDO:0013802 infantile cerebellar-retinal degeneration... HP:22 ND: 4 129 MONDO:0014162 infantile hypertrophic cardiomyopathy due to MRPL44 deficien... HP:4 ND: 1 130 MONDO:0010060 infantile onset spinocerebellar ataxia... HP:31 ND: 4 131 MONDO:0016805 isolated oxidative phosphorylation complex disorder... HP:0 ND: 0 132 MONDO:0010787 Kearns-Sayre syndrome... HP:34 ND: 12 133 MONDO:0007873 lactic acidosis, chronic adult form... HP:2 ND: 0 134 MONDO:0009505 lactic aciduria due to D-lactic acid... HP:0 ND: 0 135 MONDO:0010788 Leber hereditary optic neuropathy... HP:20 ND: 4 136 MONDO:0010772 Leber optic atrophy and dystonia... HP:18 ND: 5 137 MONDO:0010640 Leber optic atrophy, susceptibility to... HP:0 ND: 0 138 MONDO:0020478 Leber plus disease... HP:0 ND: 0 139 MONDO:0018859 Leigh disease... HP:13 ND: 3 140 MONDO:0009723 Leigh syndrome... HP:0 ND: 0 141 MONDO:0019083 Leigh syndrome with cardiomyopathy... HP:64 ND: 12 142 MONDO:0016815 Leigh syndrome with leukodystrophy... HP:0 ND: 0 143 MONDO:0016816 Leigh syndrome with nephrotic syndrome... HP:0 ND: 0 144 MONDO:0014905 Leigh-like basal ganglia disease-optic atrophy-peripheral ne... HP:15 ND: 6 145 MONDO:0013726 lethal encephalopathy due to mitochondrial and peroxisomal f... HP:21 ND: 5 146 MONDO:0010792 lethal infantile mitochondrial myopathy... HP:14 ND: 2 147 MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-ca... HP:13 ND: 6 148 MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvem... HP:15 ND: 6 149 MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure... HP:16 ND: 5 150 MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high la... HP:25 ND: 6 151 MONDO:0013762 lipoic acid synthetase deficiency... HP:21 ND: 6 152 MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency... HP:28 ND: 6 153 MONDO:0015283 maternally-inherited cardiomyopathy and hearing loss... HP:0 ND: 0 154 MONDO:0010785 maternally-inherited diabetes and deafness... HP:33 ND: 9 155 MONDO:0016814 maternally-inherited Leigh syndrome... HP:0 ND: 0 156 MONDO:0016806 maternally-inherited mitochondrial dystonia... HP:0 ND: 0 157 MONDO:0016794 maternally-inherited mitochondrial myopathy... HP:0 ND: 0 158 MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency... HP:0 ND: 0 159 MONDO:0011246 megaconial type congenital muscular dystrophy... HP:17 ND: 7 160 MONDO:0010258 MEHMO syndrome... HP:0 ND: 0 161 MONDO:0010789 MELAS syndrome... HP:129 ND: 29 162 MONDO:0010790 MERRF syndrome... HP:17 ND: 8 163 MONDO:0009606 methemoglobinemia due to deficiency of methemoglobin reducta... HP:0 ND: 0 164 MONDO:0017390 methylmalonic acidemia without homocystinuria... HP:0 ND: 0 165 MONDO:0020858 mitochondrial complex 5 (ATP synthase) deficiency nuclear ty... HP:17 ND: 10 166 MONDO:0000066 mitochondrial complex deficiency... HP:0 ND: 0 167 MONDO:0009640 mitochondrial complex I deficiency... HP:0 ND: 0 168 MONDO:0009641 mitochondrial complex II deficiency... HP:0 ND: 0 169 MONDO:0015448 mitochondrial complex III deficiency... HP:0 ND: 0 170 MONDO:0007415 mitochondrial complex III deficiency nuclear type 1... HP:40 ND: 12 171 MONDO:0014063 mitochondrial complex III deficiency nuclear type 2... HP:30 ND: 9 172 MONDO:0014064 mitochondrial complex III deficiency nuclear type 3... HP:3 ND: 0 173 MONDO:0014065 mitochondrial complex III deficiency nuclear type 4... HP:13 ND: 5 174 MONDO:0014066 mitochondrial complex III deficiency nuclear type 5... HP:8 ND: 1 175 MONDO:0014194 mitochondrial complex III deficiency nuclear type 6... HP:8 ND: 1 176 MONDO:0014356 mitochondrial complex III deficiency nuclear type 7... HP:15 ND: 4 177 MONDO:0014364 mitochondrial complex III deficiency nuclear type 8... HP:25 ND: 6 178 MONDO:0014496 mitochondrial complex III deficiency nuclear type 9... HP:0 ND: 0 179 MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency nuclear ty... HP:55 ND: 11 180 MONDO:0013547 mitochondrial complex V (ATP synthase) deficiency nuclear ty... HP:6 ND: 1 181 MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear ty... HP:8 ND: 2 182 MONDO:0011421 mitochondrial complex V (ATP synthase) deficiency, nuclear t... HP:19 ND: 5 183 MONDO:0044970 mitochondrial disease... HP:0 ND: 0 184 MONDO:0016335 mitochondrial disease with dilated cardiomyopathy... HP:0 ND: 0 185 MONDO:0016402 mitochondrial disease with epilepsy... HP:0 ND: 0 186 MONDO:0020265 mitochondrial disease with eye involvement... HP:0 ND: 0 187 MONDO:0016327 mitochondrial disease with hypertrophic cardiomyopathy... HP:0 ND: 0 188 MONDO:0016403 mitochondrial disease with peripheral neuropathy... HP:0 ND: 0 189 MONDO:0017718 mitochondrial disorder due to a defect in assembly or matura... HP:0 ND: 0 190 MONDO:0018157 mitochondrial disorder due to a defect in mitochondrial prot... HP:0 ND: 0 191 MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopath... HP:27 ND: 4 192 MONDO:0018158 mitochondrial DNA depletion syndrome... HP:0 ND: 0 193 MONDO:0011283 mitochondrial DNA depletion syndrome 1... HP:27 ND: 7 194 MONDO:0014039 mitochondrial DNA depletion syndrome 11... HP:34 ND: 7 195 MONDO:0014175 mitochondrial DNA depletion syndrome 12... HP:9 ND: 5 196 MONDO:0014959 mitochondrial DNA depletion syndrome 12a (cardiomyopathic ty... HP:7 ND: 1 197 MONDO:0014198 mitochondrial DNA depletion syndrome 13... HP:45 ND: 12 198 MONDO:0014820 mitochondrial DNA depletion syndrome 14 (cardioencephalomyop... HP:14 ND: 3 199 MONDO:0014943 mitochondrial DNA depletion syndrome 15 (hepatocerebral type... HP:12 ND: 1 200 MONDO:0009636 mitochondrial DNA depletion syndrome 3... HP:0 ND: 0 201 MONDO:0008758 mitochondrial DNA depletion syndrome 4a... HP:0 ND: 0 202 MONDO:0013350 mitochondrial DNA depletion syndrome 4b... HP:20 ND: 7 203 MONDO:0012792 mitochondrial DNA depletion syndrome 8a... HP:14 ND: 3 204 MONDO:0009504 mitochondrial DNA depletion syndrome 9... HP:0 ND: 0 205 MONDO:0016796 mitochondrial DNA depletion syndrome, encephalomyopathic for... HP:0 ND: 0 206 MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic for... HP:44 ND: 12 207 MONDO:0016808 mitochondrial DNA depletion syndrome, hepatocerebral form... HP:0 ND: 0 208 MONDO:0018197 mitochondrial DNA depletion syndrome, hepatocerebrorenal for... HP:0 ND: 0 209 MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form... HP:57 ND: 11 210 MONDO:0018121 mitochondrial DNA maintenance syndrome... HP:0 ND: 0 211 MONDO:0004675 mitochondrial encephalomyopathy... HP:0 ND: 0 212 MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidos... HP:19 ND: 9 213 MONDO:0010944 mitochondrial import-stimulating factor... HP:0 ND: 0 214 MONDO:0011210 mitochondrial intermembrane space protein Tim12, yeast, homo... HP:0 ND: 0 215 MONDO:0016800 mitochondrial membrane transport disorder... HP:0 ND: 0 216 MONDO:0010892 mitochondrial myopathy and sideroblastic anemia... HP:19 ND: 3 217 MONDO:0009638 mitochondrial myopathy with a defect in mitochondrial-protei... HP:0 ND: 0 218 MONDO:0009639 mitochondrial myopathy with lactic acidosis... HP:0 ND: 0 219 MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase ... HP:37 ND: 6 220 MONDO:0020714 mitochondrial myopathy, episodic, with optic atrophy and rev... HP:26 ND: 7 221 MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopa... HP:59 ND: 9 222 MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome... HP:0 ND: 0 223 MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy... HP:0 ND: 0 224 MONDO:0010779 mitochondrial non-syndromic sensorineural deafness... HP:0 ND: 0 225 MONDO:0010799 mitochondrial non-syndromic sensorineural deafness with susc... HP:1 ND: 0 226 MONDO:0016387 mitochondrial oxidative phosphorylation disorder... HP:0 ND: 0 227 MONDO:0016795 mitochondrial oxidative phosphorylation disorder due to a du... HP:0 ND: 0 228 MONDO:0016792 mitochondrial oxidative phosphorylation disorder due to a la... HP:0 ND: 0 229 MONDO:0016793 mitochondrial oxidative phosphorylation disorder due to a po... HP:0 ND: 0 230 MONDO:0016791 mitochondrial oxidative phosphorylation disorder due to mito... HP:0 ND: 0 231 MONDO:0016578 mitochondrial oxidative phosphorylation disorder due to nucl... HP:0 ND: 0 232 MONDO:0016799 mitochondrial oxidative phosphorylation disorder with no kno... HP:0 ND: 0 233 MONDO:0016802 mitochondrial protein import disorder... HP:0 ND: 0 234 MONDO:0014471 mitochondrial proton-transporting ATP synthase complex defic... HP:0 ND: 0 235 MONDO:0013877 mitochondrial pyruvate carrier deficiency... HP:18 ND: 5 236 MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency... HP:12 ND: 5 237 MONDO:0016801 mitochondrial substrate carrier disorder... HP:0 ND: 0 238 MONDO:0012172 mitochondrial trifunctional protein deficiency... HP:58 ND: 12 239 MONDO:0019182 monogenic obesity... HP:3 ND: 0 240 MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency... HP:0 ND: 0 241 MONDO:0016797 multiple mitochondrial DNA deletion syndrome... HP:0 ND: 0 242 MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1... HP:0 ND: 0 243 MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2... HP:22 ND: 8 244 MONDO:0014132 multiple mitochondrial dysfunctions syndrome 3... HP:29 ND: 3 245 MONDO:0014611 multiple mitochondrial dysfunctions syndrome 4... HP:10 ND: 2 246 MONDO:0033282 multiple mitochondrial dysfunctions syndrome 5... HP:14 ND: 7 247 MONDO:0054785 multiple mitochondrial dysfunctions syndrome 6... HP:21 ND: 5 248 MONDO:0007908 multiple symmetric lipomatosis... HP:12 ND: 0 249 MONDO:0010791 myoglobinuria, recurrent... HP:3 ND: 0 250 MONDO:0010773 myopathy and diabetes mellitus... HP:45 ND: 9 251 MONDO:0009707 myopathy with giant abnormal mitochondria... HP:0 ND: 0 252 MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia... HP:0 ND: 0 253 MONDO:0024553 myopathy, lactic acidosis, and sideroblastic anemia 1... HP:20 ND: 3 254 MONDO:0013307 myopathy, lactic acidosis, and sideroblastic anemia 2... HP:16 ND: 6 255 MONDO:0010782 myopathy, lactic acidosis, and sideroblastic anemia 3... HP:0 ND: 0 256 MONDO:0010794 NARP syndrome... HP:30 ND: 8 257 MONDO:0009747 Navajo neurohepatopathy... HP:0 ND: 0 258 MONDO:0008069 necrotizing encephalomyelopathy, subacute, of Leigh, adult... HP:0 ND: 0 259 MONDO:0014562 neonatal encephalomyopathy-cardiomyopathy-respiratory distre... HP:14 ND: 5 260 MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency... HP:10 ND: 2 261 MONDO:0014775 neonatal severe cardiopulmonary failure due to mitochondrial... HP:16 ND: 3 262 MONDO:0010793 nephropathy, chronic tubulointerstitial... HP:0 ND: 0 263 MONDO:0013674 neurodegeneration with brain iron accumulation 4... HP:48 ND: 14 264 MONDO:0060578 neurodevelopmental disorder, mitochondrial, with abnormal mo... HP:33 ND: 7 265 MONDO:0007039 neurofibromatosis type 2... HP:38 ND: 5 266 MONDO:0011002 neuropathy, hereditary motor and sensory, type 6A... HP:26 ND: 2 267 MONDO:0019055 obsolete mitochondrial disease... HP:0 ND: 0 268 MONDO:0000067 obsolete mitochondrial DNA depletion syndrome... HP:0 ND: 0 269 MONDO:0000868 obsolete mitochondrial DNA depletion syndrome 6... HP:0 ND: 0 270 MONDO:0004061 obsolete mitochondrial myopathy... HP:0 ND: 0 271 MONDO:0016119 obsolete mitochondrial myopathy... HP:0 ND: 0 272 MONDO:0000143 obsolete multiple mitochondrial dysfunctions syndrome... HP:0 ND: 0 273 MONDO:0005934 obsolete pyruvate decarboxylase deficiency... HP:0 ND: 0 274 MONDO:0010795 oncocytic neoplasm... HP:2 ND: 0 275 MONDO:0009784 ophthalmoplegic neuromuscular disorder with abnormal mitocho... HP:0 ND: 0 276 MONDO:0008132 optic atrophy with demyelinating disease of CNS... HP:0 ND: 0 277 MONDO:0007429 optic atrophy with or without deafness, ophthalmoplegia, myo... HP:20 ND: 3 278 MONDO:0009393 ornithine translocase deficiency... HP:0 ND: 0 279 MONDO:0010796 Parkinson disease, mitochondrial... HP:0 ND: 0 280 MONDO:0010797 Pearson syndrome... HP:20 ND: 3 281 MONDO:0013972 Perrault syndrome 2... HP:1 ND: 1 282 MONDO:0014126 Perrault syndrome 4... HP:5 ND: 0 283 MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency... HP:0 ND: 0 284 MONDO:0009866 phosphoenolpyruvate carboxykinase deficiency, cytosolic... HP:0 ND: 0 285 MONDO:0009864 phosphoenolpyruvate carboxykinase deficiency, mitochondrial... HP:0 ND: 0 286 MONDO:0012683 pontocerebellar hypoplasia type 6... HP:25 ND: 5 287 MONDO:0014754 primary coenzyme Q10 deficiency 8... HP:22 ND: 4 288 MONDO:0014464 progressive encephalopathy with leukodystrophy due to DECR d... HP:35 ND: 10 289 MONDO:0005181 progressive external ophthalmoplegia... HP:0 ND: 0 290 MONDO:0000090 progressive external ophthalmoplegia with mitochondrial DNA ... HP:0 ND: 0 291 MONDO:0024528 progressive external ophthalmoplegia with mitochondrial dna ... HP:38 ND: 10 292 MONDO:0012238 progressive external ophthalmoplegia with mitochondrial DNA ... HP:11 ND: 3 293 MONDO:0012241 progressive external ophthalmoplegia with mitochondrial DNA ... HP:38 ND: 16 294 MONDO:0012415 progressive external ophthalmoplegia with mitochondrial DNA ... HP:26 ND: 9 295 MONDO:0013117 progressive external ophthalmoplegia with mitochondrial DNA ... HP:14 ND: 7 296 MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA ... HP:0 ND: 0 297 MONDO:0014656 progressive external ophthalmoplegia with mitochondrial DNA ... HP:21 ND: 7 298 MONDO:0014898 progressive external ophthalmoplegia with mitochondrial DNA ... HP:12 ND: 4 299 MONDO:0020845 progressive external ophthalmoplegia with mitochondrial dna ... HP:17 ND: 7 300 MONDO:0010923 proximal myopathy with focal depletion of mitochondria... HP:3 ND: 1 301 MONDO:0010798 proximal tubulopathy-diabetes mellitus-cerebellar ataxia syn... HP:24 ND: 6 302 MONDO:0014151 pulmonary hypertension, neonatal, susceptibility to... HP:0 ND: 0 303 MONDO:0016807 pure mitochondrial myopathy... HP:0 ND: 0 304 MONDO:0009949 pyruvate carboxylase deficiency disease... HP:0 ND: 0 305 MONDO:0018143 pyruvate carboxylase deficiency, benign type... HP:0 ND: 0 306 MONDO:0018141 pyruvate carboxylase deficiency, infantile form... HP:0 ND: 0 307 MONDO:0018142 pyruvate carboxylase deficiency, severe neonatal type... HP:0 ND: 0 308 MONDO:0019169 pyruvate dehydrogenase deficiency... HP:35 ND: 9 309 MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency... HP:31 ND: 6 310 MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency... HP:2 ND: 0 311 MONDO:0009502 pyruvate dehydrogenase E2 deficiency... HP:0 ND: 0 312 MONDO:0009529 pyruvate dehydrogenase E3 deficiency... HP:0 ND: 0 313 MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency... HP:0 ND: 0 314 MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency... HP:10 ND: 5 315 MONDO:0009950 pyruvate kinase deficiency of red cells... HP:0 ND: 0 316 MONDO:0019791 recessive mitochondrial ataxia syndrome... HP:22 ND: 6 317 MONDO:0009973 reticular dysgenesis... HP:2 ND: 0 318 MONDO:0010775 retinitis pigmentosa-deafness syndrome... HP:0 ND: 0 319 MONDO:0008922 Sengers syndrome... HP:0 ND: 0 320 MONDO:0011835 sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndro... HP:43 ND: 14 321 MONDO:0010437 severe X-linked mitochondrial encephalomyopathy... HP:36 ND: 6 322 MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency... HP:0 ND: 0 323 MONDO:0015194 sideroblastic anemia... HP:0 ND: 0 324 MONDO:0013354 spastic ataxia 4... HP:19 ND: 5 325 MONDO:0012450 spinocerebellar ataxia type 28... HP:23 ND: 9 326 MONDO:0016809 spinocerebellar ataxia with epilepsy... HP:0 ND: 0 327 MONDO:0010774 striatonigral degeneration, infantile, mitochondrial... HP:9 ND: 3 328 MONDO:0018706 syndromic sensorineural deafness due to combined oxidative p... HP:0 ND: 0 329 MONDO:0008919 systemic primary carnitine deficiency disease... HP:0 ND: 0 330 MONDO:0016803 unspecified inborn mitochondrial disorder... HP:0 ND: 0 331 MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency... HP:0 ND: 0 332 MONDO:0009614 vitamin B12-responsive methylmalonic acidemia type cblB... HP:0 ND: 0 333 MONDO:0011502 Wolfram syndrome 2... HP:8 ND: 4 334 MONDO:0010800 Wolfram syndrome, mitochondrial form... HP:16 ND: 4 335 MONDO:0018861 Zellweger-like syndrome without peroxisomal anomalies... HP:0 ND: 0 *:HP: HPO terms, ND: NAMDC terms.
Most Studied
CPEO ,
Complex I Deficiency ,
COXPD1 ,
Leigh ,
LHON ,
MELAS ,
MERRF ,
NARP ,
SANDO