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ONTOLOGY REPORT - ANNOTATIONS


Term:mitochondrial complex III deficiency
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Accession:DOID:0111139 term browser browse the term
Definition:A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial respiratory chain complex III. (DO)
Synonyms:xref: GARD:8295;   OMIM:PS124000
For additional species annotation, visit the Alliance of Genome Resources.


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mitochondrial complex III deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone JBrowse link 9 81,868,158 81,872,201 RGD:8554872
G Gdf9 growth differentiation factor 9 JBrowse link 10 38,782,519 38,793,238 RGD:8554872
G Ncor1 nuclear receptor co-repressor 1 JBrowse link 10 48,629,121 48,772,890 RGD:8554872
G Ttc19 tetratricopeptide repeat domain 19 JBrowse link 10 48,599,321 48,627,374 RGD:8554872
G Uqcrb ubiquinol-cytochrome c reductase binding protein JBrowse link 7 71,264,501 71,269,869 RGD:8554872
G Uqcrq ubiquinol-cytochrome c reductase, complex III subunit VII JBrowse link 10 38,779,132 38,782,489 RGD:8554872
G Zswim7 zinc finger, SWIM-type containing 7 JBrowse link 10 48,587,117 48,599,208 RGD:8554872
mitochondrial complex III deficiency nuclear type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone JBrowse link 9 81,868,158 81,872,201 RGD:7240710
RGD:8554872
G Cyc1 cytochrome c-1 JBrowse link 7 117,409,576 117,411,953 RGD:11554173
G Gdf9 growth differentiation factor 9 JBrowse link 10 38,782,519 38,793,238 RGD:8554872
G Lyrm7 LYR motif containing 7 JBrowse link 10 40,183,061 40,201,992 RGD:11554173
G Ncor1 nuclear receptor co-repressor 1 JBrowse link 10 48,629,121 48,772,890 RGD:8554872
G Ttc19 tetratricopeptide repeat domain 19 JBrowse link 10 48,599,321 48,627,374 RGD:11554173
RGD:8554872
G Uqcc2 ubiquinol-cytochrome c reductase complex assembly factor 2 JBrowse link 20 5,712,200 5,723,902 RGD:11554173
G Uqcc3 ubiquinol-cytochrome c reductase complex assembly factor 3 JBrowse link 1 225,076,301 225,077,079 RGD:11554173
G Uqcrb ubiquinol-cytochrome c reductase binding protein JBrowse link 7 71,264,501 71,269,869 RGD:11554173
RGD:8554872
G Uqcrc2 ubiquinol cytochrome c reductase core protein 2 JBrowse link 1 190,555,177 190,585,741 RGD:11554173
G Uqcrq ubiquinol-cytochrome c reductase, complex III subunit VII JBrowse link 10 38,779,132 38,782,489 RGD:11554173
RGD:8554872
G Zswim7 zinc finger, SWIM-type containing 7 JBrowse link 10 48,587,117 48,599,208 RGD:8554872
mitochondrial complex III deficiency nuclear type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttc19 tetratricopeptide repeat domain 19 JBrowse link 10 48,599,321 48,627,374 RGD:7240710
RGD:8554872
mitochondrial complex III deficiency nuclear type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Uqcrb ubiquinol-cytochrome c reductase binding protein JBrowse link 7 71,264,501 71,269,869 RGD:7240710
RGD:8554872
mitochondrial complex III deficiency nuclear type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Uqcrq ubiquinol-cytochrome c reductase, complex III subunit VII JBrowse link 10 38,779,132 38,782,489 RGD:7240710
RGD:8554872
mitochondrial complex III deficiency nuclear type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdzd9 PDZ domain containing 9 JBrowse link 1 190,584,878 190,604,719 RGD:8554872
G Uqcrc2 ubiquinol cytochrome c reductase core protein 2 JBrowse link 1 190,555,177 190,585,741 RGD:7240710
RGD:8554872
mitochondrial complex III deficiency nuclear type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyc1 cytochrome c-1 JBrowse link 7 117,409,576 117,411,953 RGD:7240710
RGD:8554872
mitochondrial complex III deficiency nuclear type 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Uqcc2 ubiquinol-cytochrome c reductase complex assembly factor 2 JBrowse link 20 5,712,200 5,723,902 RGD:7240710
RGD:8554872
mitochondrial complex III deficiency nuclear type 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lyrm7 LYR motif containing 7 JBrowse link 10 40,183,061 40,201,992 RGD:7240710
RGD:8554872
mitochondrial complex III deficiency nuclear type 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Uqcc3 ubiquinol-cytochrome c reductase complex assembly factor 3 JBrowse link 1 225,076,301 225,077,079 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    Nutritional and Metabolic Diseases 4396
      disease of metabolism 4396
        mitochondrial metabolism disease 310
          mitochondrial complex III deficiency 13
            mitochondrial complex III deficiency nuclear type 1 12
            mitochondrial complex III deficiency nuclear type 2 1
            mitochondrial complex III deficiency nuclear type 3 1
            mitochondrial complex III deficiency nuclear type 4 1
            mitochondrial complex III deficiency nuclear type 5 2
            mitochondrial complex III deficiency nuclear type 6 1
            mitochondrial complex III deficiency nuclear type 7 1
            mitochondrial complex III deficiency nuclear type 8 1
            mitochondrial complex III deficiency nuclear type 9 1
Path 2
Term Annotations click to browse term
  disease 15602
    Developmental Diseases 8837
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7627
        genetic disease 7068
          inherited metabolic disorder 1884
            mitochondrial metabolism disease 310
              mitochondrial complex III deficiency 13
                mitochondrial complex III deficiency nuclear type 1 12
                mitochondrial complex III deficiency nuclear type 2 1
                mitochondrial complex III deficiency nuclear type 3 1
                mitochondrial complex III deficiency nuclear type 4 1
                mitochondrial complex III deficiency nuclear type 5 2
                mitochondrial complex III deficiency nuclear type 6 1
                mitochondrial complex III deficiency nuclear type 7 1
                mitochondrial complex III deficiency nuclear type 8 1
                mitochondrial complex III deficiency nuclear type 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.