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ONTOLOGY REPORT - ANNOTATIONS


Term:mitochondrial myopathy
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Accession:DOID:699 term browser browse the term
Definition:A group of muscle diseases associated with abnormal mitochondria function.
Synonyms:exact_synonym: Luft Disease;   Luft's Disease;   Lufts Disease;   Megaconial Myopathy;   Mitochondrial Myopathies;   Pleoconial Myopathies;   megaconial myopathies;   pleoconial myopathy
 narrow_synonym: MITOCHONDRIAL MYOPATHY, ISOLATED;   MYOPATHY, MITOCHONDRIAL, LATE-ONSET;   MYOTONIC DYSTROPHY-LIKE MYOPATHY;   SKELETAL MYOPATHY, RESPONSIVE TO RIBOFLAVIN
 primary_id: MESH:D017240
 alt_id: OMIM:251900;   RDO:0003235
 xref: NCI:C101328
For additional species annotation, visit the Alliance of Genome Resources.


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mitochondrial myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Camkmt calmodulin-lysine N-methyltransferase JBrowse link 6 8,346,645 8,729,773 RGD:11554173
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 JBrowse link 10 50,439,778 50,563,920 RGD:13592920
G Dna2 DNA replication helicase/nuclease 2 RGD:10401079
G Eya1 EYA transcriptional coactivator and phosphatase 1 JBrowse link 5 4,275,728 4,495,525 RGD:8694159
G Fdx2 ferredoxin 2 JBrowse link 8 22,086,534 22,091,450 RGD:8554872
RGD:7240710
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:11554173
G Mt-cyb mitochondrially encoded cytochrome b JBrowse link MT 14,136 15,278 RGD:8554872
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:11554173
G Slc25a4 solute carrier family 25 member 4 JBrowse link 16 49,266,903 49,270,698 RGD:1580619
RGD:8554872
G Slc25a42 solute carrier family 25, member 42 JBrowse link 16 20,962,144 21,000,191 RGD:8554872
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:11554173
G Vdac1 voltage-dependent anion channel 1 JBrowse link 10 37,724,915 37,752,827 RGD:11554173
CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
chronic progressive external ophthalmoplegia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Milr1 mast cell immunoglobulin-like receptor 1 JBrowse link 10 94,944,243 94,961,795 RGD:8554872
G Myf5 myogenic factor 5 JBrowse link 7 49,729,533 49,732,974 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:737726
RGD:11554173
RGD:8694204
RGD:8694183
RGD:8694170
RGD:8694163
G Polg2 DNA polymerase gamma 2, accessory subunit JBrowse link 10 94,968,836 94,979,259 RGD:8554872
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:8554872
G Slc25a4 solute carrier family 25 member 4 JBrowse link 16 49,266,903 49,270,698 RGD:1580622
RGD:8554872
RGD:1580620
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:11554173
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:1600544
RGD:8554872
combined oxidative phosphorylation deficiency 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tsfm Ts translation elongation factor, mitochondrial JBrowse link 7 70,311,948 70,319,389 RGD:7240710
RGD:8554872
combined oxidative phosphorylation deficiency 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aifm1 apoptosis inducing factor, mitochondria associated 1 JBrowse link X 135,304,063 135,343,062 RGD:7240710
RGD:8554872
G Rab33a RAB33A, member RAS oncogene family JBrowse link X 135,348,799 135,360,204 RGD:8554872
combined oxidative phosphorylation deficiency 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RGD1563482 similar to hypothetical protein FLJ38663 JBrowse link 12 37,680,152 37,682,994 RGD:7240710
RGD:8554872
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fdx2 ferredoxin 2 JBrowse link 8 22,086,534 22,091,450 RGD:7240710
Familial Horizontal Gaze Palsy with Progressive Scoliosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcc DCC netrin 1 receptor JBrowse link 18 66,518,213 67,629,801 RGD:11554173
G Robo3 roundabout guidance receptor 3 JBrowse link 8 39,892,792 39,923,735 RGD:8554872
RGD:11554173
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Robo3 roundabout guidance receptor 3 JBrowse link 8 39,892,792 39,923,735 RGD:7240710
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcc DCC netrin 1 receptor JBrowse link 18 66,518,213 67,629,801 RGD:8554872
RGD:7240710
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ncaph2 non-SMC condensin II complex, subunit H2 JBrowse link 7 130,326,597 130,343,655 RGD:8554872
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coa5 cytochrome C oxidase assembly factor 5 JBrowse link 9 44,011,471 44,024,876 RGD:11554173
G Coa6 cytochrome c oxidase assembly factor 6 JBrowse link 19 59,327,328 59,333,706 RGD:11554173
G Cox15 cytochrome c oxidase assembly homolog COX15 JBrowse link 1 263,494,850 263,511,510 RGD:11554173
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cox15 cytochrome c oxidase assembly homolog COX15 JBrowse link 1 263,494,850 263,511,510 RGD:8554872
RGD:7240710
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coa5 cytochrome C oxidase assembly factor 5 JBrowse link 9 44,011,471 44,024,876 RGD:8554872
RGD:7240710
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coa6 cytochrome c oxidase assembly factor 6 JBrowse link 19 59,327,328 59,333,706 RGD:8554872
RGD:7240710
Hyperglycinemia, Lactic Acidosis, and Seizures term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lias lipoic acid synthetase JBrowse link 14 44,507,217 44,524,287 RGD:7240710
RGD:8554872
G Rpl9 ribosomal protein L9 JBrowse link 14 44,524,419 44,527,613 RGD:8554872
G Ugdh UDP-glucose 6-dehydrogenase JBrowse link 14 44,479,614 44,502,845 RGD:8554872
Kearns-Sayre syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Ppargc1a PPARG coactivator 1 alpha JBrowse link 14 63,095,291 63,190,688 RGD:7241824
G Tfam transcription factor A, mitochondrial JBrowse link 20 18,594,057 18,606,106 RGD:13592920
MELAS syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Mt-co1 mitochondrially encoded cytochrome c oxidase I JBrowse link MT 5,323 6,867 RGD:11554173
RGD:8554872
G Mt-co2 mitochondrially encoded cytochrome c oxidase II JBrowse link MT 7,006 7,689 RGD:11554173
G Mt-co3 mitochondrially encoded cytochrome c oxidase III JBrowse link MT 8,599 9,382 RGD:5491184
RGD:11554173
G Mt-cyb mitochondrially encoded cytochrome b JBrowse link MT 14,136 15,278 RGD:11554173
G Mt-nd1 mitochondrially encoded NADH dehydrogenase 1 JBrowse link MT 2,740 3,694 RGD:5490235
RGD:8554872
RGD:11554173
G Mt-nd4 mitochondrially encoded NADH dehydrogenase 4 JBrowse link MT 10,160 11,537 RGD:8554872
G Mt-nd5 mitochondrially encoded NADH dehydrogenase 5 JBrowse link MT 11,736 13,565 RGD:5491173
RGD:8554872
RGD:11554173
RGD:5507825
RGD:5491184
G Mt-nd6 mitochondrially encoded NADH dehydrogenase 6 JBrowse link MT 13,543 14,061 RGD:11554173
RGD:8554872
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 JBrowse link 9 69,919,863 69,953,182 RGD:8554872
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:11554173
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
MERRF Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Mt-nd5 mitochondrially encoded NADH dehydrogenase 5 JBrowse link MT 11,736 13,565 RGD:8554872
mitochondrial complex V (ATP synthase) deficiency nuclear type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem70 transmembrane protein 70 JBrowse link 5 2,019,852 2,037,038 RGD:7240710
RGD:8554872
mitochondrial DNA depletion syndrome 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mgme1 mitochondrial genome maintenance exonuclease 1 JBrowse link 3 138,397,925 138,406,672 RGD:7240710
RGD:8554872
mitochondrial DNA depletion syndrome 12a term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a4 solute carrier family 25 member 4 JBrowse link 16 49,266,903 49,270,698 RGD:8554872
RGD:7240710
mitochondrial DNA depletion syndrome 12b term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a4 solute carrier family 25 member 4 JBrowse link 16 49,266,903 49,270,698 RGD:7240710
RGD:8554872
mitochondrial DNA depletion syndrome 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbxl4 F-box and leucine-rich repeat protein 4 JBrowse link 5 36,555,061 36,628,920 RGD:7240710
RGD:8554872
mitochondrial DNA depletion syndrome 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opa1 OPA1, mitochondrial dynamin like GTPase JBrowse link 11 74,717,600 74,793,902 RGD:8554872
RGD:7240710
mitochondrial DNA depletion syndrome 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tfam transcription factor A, mitochondrial JBrowse link 20 18,594,057 18,606,106 RGD:8554872
RGD:7240710
mitochondrial DNA depletion syndrome 4A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aqp4 aquaporin 4 JBrowse link 18 6,766,009 6,782,757 RGD:5148026
G Edar ectodysplasin-A receptor JBrowse link 20 28,179,132 28,263,092 RGD:8554872
G Fanci FA complementation group I JBrowse link 1 141,116,565 141,172,997 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8694184
RGD:8554872
RGD:11554173
RGD:7240710
RGD:8694317
RGD:8694284
G Ranbp2 RAN binding protein 2 JBrowse link 20
20
28,027,054
28,365,538
28,076,664
28,375,676
RGD:8554872
mitochondrial DNA depletion syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sucla2 succinate-CoA ligase ADP-forming beta subunit JBrowse link 15 55,461,695 55,516,954 RGD:7240710
RGD:8554872
mitochondrial DNA depletion syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:7240710
RGD:8554872
mitochondrial DNA depletion syndrome 8A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ncaph2 non-SMC condensin II complex, subunit H2 JBrowse link 7 130,326,597 130,343,655 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:8554872
RGD:7240710
G Tymp thymidine phosphorylase JBrowse link 7 130,342,481 130,347,845 RGD:8554872
mitochondrial encephalomyopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coq7 coenzyme Q7, hydroxylase JBrowse link 1 188,176,060 188,190,874 RGD:10402107
G Dnm1l dynamin 1-like JBrowse link 11 88,830,968 88,882,271 RGD:11554173
G Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial JBrowse link 17 29,006,981 29,438,906 RGD:8554872
G Fbxl4 F-box and leucine-rich repeat protein 4 JBrowse link 5 36,555,061 36,628,920 RGD:8554872
G Foxred1 FAD-dependent oxidoreductase domain containing 1 JBrowse link 8 36,401,317 36,410,589 RGD:11554173
G Mff mitochondrial fission factor JBrowse link 9 88,490,280 88,518,517 RGD:8554872
G Mt-cyb mitochondrially encoded cytochrome b JBrowse link MT 14,136 15,278 RGD:8554872
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 JBrowse link 13 89,606,848 89,623,506 RGD:11554173
G Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 JBrowse link 9 113,875,718 113,900,169 RGD:11554173
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8694177
G RGD1563482 similar to hypothetical protein FLJ38663 JBrowse link 12 37,680,152 37,682,994 RGD:11554173
G Tmem70 transmembrane protein 70 JBrowse link 5 2,019,852 2,037,038 RGD:11554173
G Tymp thymidine phosphorylase JBrowse link 7 130,342,481 130,347,845 RGD:1601000
Mitochondrial Encephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mt-nd3 mitochondrially encoded NADH dehydrogenase 3 JBrowse link MT 9,451 9,798 RGD:5507824
G Timm50 translocase of inner mitochondrial membrane 50 JBrowse link 1 85,470,810 85,480,813 RGD:8554872
Mitochondrial Myopathy with Lactic Acidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpla8 patatin-like phospholipase domain containing 8 JBrowse link 6 64,224,870 64,288,465 RGD:8554872
RGD:7240710
Mitochondrial Myopathy, and Ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Msto1 misato mitochondrial distribution and morphology regulator 1 JBrowse link 2 188,212,211 188,216,482 RGD:8554872
RGD:7240710
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gfer growth factor, augmenter of liver regeneration JBrowse link 10 14,059,347 14,061,703 RGD:7240710
RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 JBrowse link 20 13,665,046 13,666,845 RGD:7240710
RGD:8554872
myopathy, lactic acidosis, and sideroblastic anemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnm1l dynamin 1-like JBrowse link 11 88,830,968 88,882,271 RGD:8554872
G Pus1 pseudouridine synthase 1 JBrowse link 12 51,936,721 51,945,930 RGD:8554872
RGD:11554173
G Yars2 tyrosyl-tRNA synthetase 2 JBrowse link 11 88,882,615 88,888,377 RGD:8554872
RGD:11554173
myopathy, lactic acidosis, and sideroblastic anemia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pus1 pseudouridine synthase 1 JBrowse link 12 51,936,721 51,945,930 RGD:7240710
RGD:8554872
myopathy, lactic acidosis, and sideroblastic anemia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Yars2 tyrosyl-tRNA synthetase 2 JBrowse link 11 88,882,615 88,888,377 RGD:7240710
RGD:8554872
myopathy, lactic acidosis, and sideroblastic anemia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mt-atp6 mitochondrially encoded ATP synthase 6 JBrowse link MT 7,919 8,599 RGD:8554872
NARP syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mt-atp6 mitochondrially encoded ATP synthase 6 JBrowse link MT 7,919 8,599 RGD:13825442
RGD:8554872
RGD:11554173
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:7240710
RGD:8554872
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a4 solute carrier family 25 member 4 JBrowse link 16 49,266,903 49,270,698 RGD:7240710
RGD:8554872
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:8554872
RGD:7240710
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Milr1 mast cell immunoglobulin-like receptor 1 JBrowse link 10 94,944,243 94,961,795 RGD:8554872
G Polg2 DNA polymerase gamma 2, accessory subunit JBrowse link 10 94,968,836 94,979,259 RGD:7240710
RGD:8554872
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:7240710
RGD:8554872
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:7240710
RGD:8554872
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:8554872
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnaseh1 ribonuclease H1 JBrowse link 6 47,916,188 47,925,582 RGD:8554872
RGD:7240710
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tk2 thymidine kinase 2 JBrowse link 19 917,203 939,236 RGD:8554872
RGD:7240710
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dguok deoxyguanosine kinase JBrowse link 4 115,180,433 115,208,061 RGD:8554872
RGD:7240710
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Top3a DNA topoisomerase III alpha JBrowse link 10 46,980,646 47,018,728 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15626
    Nutritional and Metabolic Diseases 4376
      disease of metabolism 4376
        mitochondrial metabolism disease 307
          Mitochondrial Cytopathy 75
            mitochondrial myopathy 75
              Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy 1
              MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT 1
              Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive + 1
              Mitochondrial Myopathy with Diabetes 0
              Mitochondrial Myopathy with Lactic Acidosis 1
              Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport 0
              Mitochondrial Myopathy, Infantile, Transient 0
              Mitochondrial Myopathy, Lethal Infantile 0
              Mitochondrial Myopathy, and Ataxia 1
              Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay 2
              NARP syndrome 1
              chronic progressive external ophthalmoplegia + 19
              combined oxidative phosphorylation deficiency 3 1
              mitochondrial DNA depletion syndrome 11 1
              mitochondrial DNA depletion syndrome 12a 1
              mitochondrial DNA depletion syndrome 12b 1
              mitochondrial DNA depletion syndrome 14 1
              mitochondrial DNA depletion syndrome 15 1
              mitochondrial encephalomyopathy + 46
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        peripheral nervous system disease 2127
          neuropathy 1950
            neuromuscular disease 1522
              muscular disease 959
                muscle tissue disease 685
                  myopathy 552
                    mitochondrial myopathy 75
                      Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy 1
                      MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT 1
                      Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive + 1
                      Mitochondrial Myopathy with Diabetes 0
                      Mitochondrial Myopathy with Lactic Acidosis 1
                      Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport 0
                      Mitochondrial Myopathy, Infantile, Transient 0
                      Mitochondrial Myopathy, Lethal Infantile 0
                      Mitochondrial Myopathy, and Ataxia 1
                      Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay 2
                      NARP syndrome 1
                      chronic progressive external ophthalmoplegia + 19
                      combined oxidative phosphorylation deficiency 3 1
                      mitochondrial DNA depletion syndrome 11 1
                      mitochondrial DNA depletion syndrome 12a 1
                      mitochondrial DNA depletion syndrome 12b 1
                      mitochondrial DNA depletion syndrome 14 1
                      mitochondrial DNA depletion syndrome 15 1
                      mitochondrial encephalomyopathy + 46
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.