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ONTOLOGY REPORT - ANNOTATIONS


Term:combined oxidative phosphorylation deficiency
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Accession:DOID:0060286 term browser browse the term
Definition:A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction, and has_material_basis_in autosomal recessive inheritance. (DO)
Synonyms:primary_id: RDO:9004947
 xref: GARD:12893;   OMIM:PS609060
For additional species annotation, visit the Alliance of Genome Resources.


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combined oxidative phosphorylation deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aars2 alanyl-tRNA synthetase 2, mitochondrial JBrowse link 9 17,869,301 17,881,762 RGD:8554872
G Aifm1 apoptosis inducing factor, mitochondria associated 1 JBrowse link X 135,304,063 135,343,062 RGD:8554872
G Avil advillin JBrowse link 7 70,292,565 70,310,588 RGD:8554872
G Copb2 COPI coat complex subunit beta 2 JBrowse link 8 106,582,339 106,603,763 RGD:8554872
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial JBrowse link 1 191,997,512 192,025,350 RGD:8554872
G Gfm1 G elongation factor, mitochondrial 1 JBrowse link 2 164,601,575 164,646,478 RGD:8554872
G Mphosph9 M-phase phosphoprotein 9 JBrowse link 12 37,700,282 37,766,487 RGD:8554872
G Mrps16 mitochondrial ribosomal protein S16 JBrowse link 15 4,351,292 4,353,694 RGD:8554872
G Mrps22 mitochondrial ribosomal protein S22 JBrowse link 8 106,604,421 106,617,591 RGD:8554872
G Mto1 mitochondrial tRNA translation optimization 1 JBrowse link 8 85,807,703 85,832,263 RGD:13592920
G Rab33a RAB33A, member RAS oncogene family JBrowse link X 135,348,799 135,360,204 RGD:8554872
G RGD1563482 similar to hypothetical protein FLJ38663 JBrowse link 12 37,680,152 37,682,994 RGD:8554872
G Tsfm Ts translation elongation factor, mitochondrial JBrowse link 7 70,311,948 70,319,389 RGD:8554872
G Tufm Tu translation elongation factor, mitochondrial JBrowse link 1 197,903,582 197,907,189 RGD:8554872
combined oxidative phosphorylation deficiency 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gfm1 G elongation factor, mitochondrial 1 JBrowse link 2 164,601,575 164,646,478 RGD:7240710
RGD:8554872
G Mrpl44 mitochondrial ribosomal protein L44 JBrowse link 9 85,542,763 85,547,814 RGD:8554872
G Mrps22 mitochondrial ribosomal protein S22 JBrowse link 8 106,604,421 106,617,591 RGD:8554872
G Nars2 asparaginyl-tRNA synthetase 2, mitochondrial JBrowse link 1 161,922,132 162,035,817 RGD:8554872
G Vars2 valyl-tRNA synthetase 2, mitochondrial JBrowse link 20 3,588,462 3,599,514 RGD:8554872
combined oxidative phosphorylation deficiency 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mto1 mitochondrial tRNA translation optimization 1 JBrowse link 8 85,807,703 85,832,263 RGD:7240710
RGD:8554872
combined oxidative phosphorylation deficiency 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rmnd1 required for meiotic nuclear division 1 homolog JBrowse link 1 40,948,843 40,982,669 RGD:7240710
RGD:8554872
combined oxidative phosphorylation deficiency 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial JBrowse link 1 191,997,512 192,025,350 RGD:7240710
RGD:8554872
combined oxidative phosphorylation deficiency 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpt1 polyribonucleotide nucleotidyltransferase 1 JBrowse link 14 113,530,470 113,561,645 RGD:7240710
RGD:8554872
combined oxidative phosphorylation deficiency 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial JBrowse link 17 29,006,981 29,438,906 RGD:7240710
RGD:8554872
G Lyrm4 LYR motif containing 4 JBrowse link 17 29,439,042 29,552,773 RGD:8554872
combined oxidative phosphorylation deficiency 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mtfmt mitochondrial methionyl-tRNA formyltransferase JBrowse link 8 70,952,209 70,986,393 RGD:7240710
RGD:8554872
combined oxidative phosphorylation deficiency 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrpl44 mitochondrial ribosomal protein L44 JBrowse link 9 85,542,763 85,547,814 RGD:7240710
RGD:8554872
combined oxidative phosphorylation deficiency 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elac2 elaC ribonuclease Z 2 JBrowse link 10 51,478,378 51,501,167 RGD:7240710
RGD:8554872
combined oxidative phosphorylation deficiency 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sfxn4 sideroflexin 4 JBrowse link 1 282,213,610 282,236,851 RGD:7240710
RGD:8554872
combined oxidative phosphorylation deficiency 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lyrm4 LYR motif containing 4 JBrowse link 17 29,439,042 29,552,773 RGD:7240710
RGD:8554872
combined oxidative phosphorylation deficiency 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrps16 mitochondrial ribosomal protein S16 JBrowse link 15 4,351,292 4,353,694 RGD:7240710
RGD:8554872
combined oxidative phosphorylation deficiency 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vars2 valyl-tRNA synthetase 2, mitochondrial JBrowse link 20 3,588,462 3,599,514 RGD:7240710
RGD:8554872
combined oxidative phosphorylation deficiency 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tars2 threonyl-tRNA synthetase 2, mitochondrial JBrowse link 2 197,861,071 197,881,347 RGD:7240710
RGD:8554872
combined oxidative phosphorylation deficiency 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp5f1a ATP synthase F1 subunit alpha JBrowse link 18 74,156,553 74,164,490 RGD:7240710
RGD:8554872
combined oxidative phosphorylation deficiency 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gtpbp3 GTP binding protein 3 JBrowse link 16 19,897,135 19,902,226 RGD:7240710
RGD:8554872
combined oxidative phosphorylation deficiency 24 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nars2 asparaginyl-tRNA synthetase 2, mitochondrial JBrowse link 1 161,922,132 162,035,817 RGD:7240710
RGD:8554872
combined oxidative phosphorylation deficiency 25 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mars2 methionyl-tRNA synthetase 2, mitochondrial JBrowse link 9 64,434,814 64,437,730 RGD:7240710
RGD:8554872
combined oxidative phosphorylation deficiency 26 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trmt5 tRNA methyltransferase 5 JBrowse link 6 96,164,579 96,171,680 RGD:7240710
RGD:8554872
combined oxidative phosphorylation deficiency 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cars2 cysteinyl-tRNA synthetase 2, mitochondrial JBrowse link 16 83,288,613 83,325,706 RGD:7240710
RGD:8554872
combined oxidative phosphorylation deficiency 28 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a26 solute carrier family 25 member 26 JBrowse link 4 126,522,335 126,615,402 RGD:8554872
RGD:7240710
combined oxidative phosphorylation deficiency 29 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Txn2 thioredoxin 2 JBrowse link 7 119,144,350 119,158,173 RGD:8554872
RGD:7240710
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 30 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trmt10c tRNA methyltransferase 10C, mitochondrial RNase P subunit JBrowse link 11 47,047,342 47,052,420 RGD:8554872
RGD:7240710
combined oxidative phosphorylation deficiency 31 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mipep mitochondrial intermediate peptidase JBrowse link 15 41,084,180 41,192,621 RGD:8554872
RGD:7240710
combined oxidative phosphorylation deficiency 32 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrps34 mitochondrial ribosomal protein S34 JBrowse link 10 14,257,001 14,258,132 RGD:8554872
RGD:7240710
combined oxidative phosphorylation deficiency 33 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1qbp complement C1q binding protein JBrowse link 10 57,613,876 57,618,527 RGD:8554872
RGD:7240710
combined oxidative phosphorylation deficiency 34 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrps7 mitochondrial ribosomal protein S7 JBrowse link 10 104,155,805 104,158,840 RGD:8554872
RGD:7240710
combined oxidative phosphorylation deficiency 35 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trit1 tRNA isopentenyltransferase 1 JBrowse link 5 140,711,943 140,756,893 RGD:8554872
RGD:7240710
combined oxidative phosphorylation deficiency 36 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrps2 mitochondrial ribosomal protein S2 JBrowse link 3 7,051,695 7,056,726 RGD:8554872
RGD:7240710
combined oxidative phosphorylation deficiency 37 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Micos13 mitochondrial contact site and cristae organizing system subunit 13 JBrowse link 9 10,446,567 10,449,566 RGD:8554872
RGD:7240710
combined oxidative phosphorylation deficiency 38 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrps14 mitochondrial ribosomal protein S14 JBrowse link 13 77,940,454 77,946,201 RGD:8554872
RGD:7240710
combined oxidative phosphorylation deficiency 39 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gfm2 G elongation factor, mitochondrial 2 JBrowse link 2 27,949,195 27,984,045 RGD:8554872
RGD:7240710
combined oxidative phosphorylation deficiency 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tufm Tu translation elongation factor, mitochondrial JBrowse link 1 197,903,582 197,907,189 RGD:7240710
RGD:8554872
combined oxidative phosphorylation deficiency 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Copb2 COPI coat complex subunit beta 2 JBrowse link 8 106,582,339 106,603,763 RGD:8554872
G Mrps22 mitochondrial ribosomal protein S22 JBrowse link 8 106,604,421 106,617,591 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
combined oxidative phosphorylation deficiency 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aars2 alanyl-tRNA synthetase 2, mitochondrial JBrowse link 9 17,869,301 17,881,762 RGD:7240710
RGD:8554872
G Sdhd succinate dehydrogenase complex subunit D JBrowse link 8 55,028,125 55,037,604 RGD:8554872
combined oxidative phosphorylation deficiency 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrpl3 mitochondrial ribosomal protein L3 JBrowse link 8 113,603,533 113,626,893 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        mitochondrial metabolism disease 308
          combined oxidative phosphorylation deficiency 44
            combined oxidative phosphorylation deficiency 1 5
            combined oxidative phosphorylation deficiency 10 1
            combined oxidative phosphorylation deficiency 11 1
            combined oxidative phosphorylation deficiency 12 1
            combined oxidative phosphorylation deficiency 13 1
            combined oxidative phosphorylation deficiency 14 2
            combined oxidative phosphorylation deficiency 15 1
            combined oxidative phosphorylation deficiency 16 1
            combined oxidative phosphorylation deficiency 17 1
            combined oxidative phosphorylation deficiency 18 1
            combined oxidative phosphorylation deficiency 19 1
            combined oxidative phosphorylation deficiency 2 1
            combined oxidative phosphorylation deficiency 20 1
            combined oxidative phosphorylation deficiency 21 1
            combined oxidative phosphorylation deficiency 22 1
            combined oxidative phosphorylation deficiency 23 1
            combined oxidative phosphorylation deficiency 24 1
            combined oxidative phosphorylation deficiency 25 1
            combined oxidative phosphorylation deficiency 26 1
            combined oxidative phosphorylation deficiency 27 1
            combined oxidative phosphorylation deficiency 28 1
            combined oxidative phosphorylation deficiency 29 1
            combined oxidative phosphorylation deficiency 3 1
            combined oxidative phosphorylation deficiency 30 1
            combined oxidative phosphorylation deficiency 31 1
            combined oxidative phosphorylation deficiency 32 1
            combined oxidative phosphorylation deficiency 33 1
            combined oxidative phosphorylation deficiency 34 1
            combined oxidative phosphorylation deficiency 35 1
            combined oxidative phosphorylation deficiency 36 1
            combined oxidative phosphorylation deficiency 37 1
            combined oxidative phosphorylation deficiency 38 1
            combined oxidative phosphorylation deficiency 39 1
            combined oxidative phosphorylation deficiency 4 1
            combined oxidative phosphorylation deficiency 5 2
            combined oxidative phosphorylation deficiency 6 2
            combined oxidative phosphorylation deficiency 7 1
            combined oxidative phosphorylation deficiency 8 2
            combined oxidative phosphorylation deficiency 9 1
Path 2
Term Annotations click to browse term
  disease 15639
    Developmental Diseases 8774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7556
        genetic disease 7052
          inherited metabolic disorder 1879
            mitochondrial metabolism disease 308
              combined oxidative phosphorylation deficiency 44
                combined oxidative phosphorylation deficiency 1 5
                combined oxidative phosphorylation deficiency 10 1
                combined oxidative phosphorylation deficiency 11 1
                combined oxidative phosphorylation deficiency 12 1
                combined oxidative phosphorylation deficiency 13 1
                combined oxidative phosphorylation deficiency 14 2
                combined oxidative phosphorylation deficiency 15 1
                combined oxidative phosphorylation deficiency 16 1
                combined oxidative phosphorylation deficiency 17 1
                combined oxidative phosphorylation deficiency 18 1
                combined oxidative phosphorylation deficiency 19 1
                combined oxidative phosphorylation deficiency 2 1
                combined oxidative phosphorylation deficiency 20 1
                combined oxidative phosphorylation deficiency 21 1
                combined oxidative phosphorylation deficiency 22 1
                combined oxidative phosphorylation deficiency 23 1
                combined oxidative phosphorylation deficiency 24 1
                combined oxidative phosphorylation deficiency 25 1
                combined oxidative phosphorylation deficiency 26 1
                combined oxidative phosphorylation deficiency 27 1
                combined oxidative phosphorylation deficiency 28 1
                combined oxidative phosphorylation deficiency 29 1
                combined oxidative phosphorylation deficiency 3 1
                combined oxidative phosphorylation deficiency 30 1
                combined oxidative phosphorylation deficiency 31 1
                combined oxidative phosphorylation deficiency 32 1
                combined oxidative phosphorylation deficiency 33 1
                combined oxidative phosphorylation deficiency 34 1
                combined oxidative phosphorylation deficiency 35 1
                combined oxidative phosphorylation deficiency 36 1
                combined oxidative phosphorylation deficiency 37 1
                combined oxidative phosphorylation deficiency 38 1
                combined oxidative phosphorylation deficiency 39 1
                combined oxidative phosphorylation deficiency 4 1
                combined oxidative phosphorylation deficiency 5 2
                combined oxidative phosphorylation deficiency 6 2
                combined oxidative phosphorylation deficiency 7 1
                combined oxidative phosphorylation deficiency 8 2
                combined oxidative phosphorylation deficiency 9 1
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.