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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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 nuclear type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Mitochondrial complex III deficiency, nuclear type 1
ClinVar Annotator: match by term: Decreased activity of mitochondrial complex III
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
OMIM
ClinVar
PMID:11528392, PMID:12215968, PMID:12547234, PMID:12910490, PMID:17314340, PMID:17403714, PMID:18386115, PMID:18771761, PMID:19162478, PMID:19389488, PMID:19508421, PMID:20518024, PMID:21274865, PMID:22277166, PMID:22277967, PMID:22310368, PMID:24033266, PMID:25741868, PMID:25914718, PMID:26467025, PMID:27959697, PMID:28492532, PMID:31435670, PMID:32313153, PMID:32581362 NCBI chr 9:81,868,158...81,872,201
Ensembl chr 9:81,868,265...81,872,197
JBrowse link
G Cyc1 cytochrome c-1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:117,409,576...117,411,953
Ensembl chr 7:117,409,576...117,411,953
JBrowse link
G Gdf9 growth differentiation factor 9 ISO ClinVar Annotator: match by term: Mitochondrial complex III deficiency, nuclear type 1 ClinVar NCBI chr10:38,782,519...38,793,238
Ensembl chr10:38,788,992...38,792,940
JBrowse link
G Lyrm7 LYR motif containing 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:40,183,061...40,201,992
Ensembl chr10:40,183,078...40,201,992
JBrowse link
G Ncor1 nuclear receptor co-repressor 1 ISO ClinVar Annotator: match by term: Mitochondrial complex III deficiency, nuclear type 1 ClinVar NCBI chr10:48,629,121...48,772,890
Ensembl chr10:48,629,121...48,772,890
JBrowse link
G Ttc19 tetratricopeptide repeat domain 19 ISO ClinVar Annotator: match by term: Mitochondrial complex III deficiency, nuclear type 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:21278747 NCBI chr10:48,599,321...48,627,374
Ensembl chr10:48,599,321...48,627,374
JBrowse link
G Uqcc2 ubiquinol-cytochrome c reductase complex assembly factor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:5,712,200...5,723,902
Ensembl chr20:5,712,203...5,723,902
JBrowse link
G Uqcc3 ubiquinol-cytochrome c reductase complex assembly factor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:225,076,301...225,077,079
Ensembl chr 1:225,076,301...225,077,079
JBrowse link
G Uqcrb ubiquinol-cytochrome c reductase binding protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial complex III deficiency, nuclear type 1
CTD
ClinVar
PMID:12709789 NCBI chr 7:71,264,501...71,269,869
Ensembl chr 7:71,264,514...71,269,869
Ensembl chr 1:71,264,514...71,269,869
JBrowse link
G Uqcrc2 ubiquinol cytochrome c reductase core protein 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:190,555,177...190,585,741
Ensembl chr 1:190,555,177...190,585,734
JBrowse link
G Uqcrq ubiquinol-cytochrome c reductase, complex III subunit VII ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial complex III deficiency, nuclear type 1
CTD
ClinVar
NCBI chr10:38,779,132...38,782,489
Ensembl chr10:38,779,132...38,782,419
JBrowse link
G Zswim7 zinc finger, SWIM-type containing 7 ISO ClinVar Annotator: match by term: Mitochondrial complex III deficiency, nuclear type 1 ClinVar NCBI chr10:48,587,117...48,599,208
Ensembl chr10:48,587,119...48,599,208
JBrowse link
Mitochondrial Complex III Deficiency Nuclear Type 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uqcrfs1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10 OMIM
ClinVar
PMID:31883641 NCBI chr17:35,677,984...35,682,262
Ensembl chr17:35,677,984...35,682,259
JBrowse link
mitochondrial complex III deficiency nuclear type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncor1 nuclear receptor co-repressor 1 ISO ClinVar Annotator: match by term: Mitochondrial complex III deficiency, nuclear type 2 ClinVar NCBI chr10:48,629,121...48,772,890
Ensembl chr10:48,629,121...48,772,890
JBrowse link
G Ttc19 tetratricopeptide repeat domain 19 ISO ClinVar Annotator: match by term: Mitochondrial complex III deficiency, nuclear type 2
ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by OMIM:615157
OMIM
ClinVar
PMID:21278747, PMID:23532514, PMID:24368687, PMID:24397319, PMID:25741868, PMID:28492532 NCBI chr10:48,599,321...48,627,374
Ensembl chr10:48,599,321...48,627,374
JBrowse link
mitochondrial complex III deficiency nuclear type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uqcrb ubiquinol-cytochrome c reductase binding protein ISO ClinVar Annotator: match by OMIM:615158 OMIM
ClinVar
NCBI chr 7:71,264,501...71,269,869
Ensembl chr 7:71,264,514...71,269,869
Ensembl chr 1:71,264,514...71,269,869
JBrowse link
mitochondrial complex III deficiency nuclear type 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf9 growth differentiation factor 9 ISO ClinVar Annotator: match by term: Mitochondrial complex III deficiency, nuclear type 4 ClinVar NCBI chr10:38,782,519...38,793,238
Ensembl chr10:38,788,992...38,792,940
JBrowse link
G Uqcrq ubiquinol-cytochrome c reductase, complex III subunit VII ISO ClinVar Annotator: match by term: Mitochondrial complex III deficiency, nuclear type 4
ClinVar Annotator: match by OMIM:615159
OMIM
ClinVar
PMID:18439546, PMID:25741868, PMID:28492532 NCBI chr10:38,779,132...38,782,489
Ensembl chr10:38,779,132...38,782,419
JBrowse link
mitochondrial complex III deficiency nuclear type 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdzd9 PDZ domain containing 9 ISO ClinVar Annotator: match by term: Mitochondrial complex III deficiency, nuclear type 5 ClinVar PMID:23281071, PMID:25741868, PMID:28275242 NCBI chr 1:190,584,878...190,604,719
Ensembl chr 1:190,584,883...190,598,122
JBrowse link
G Uqcrc2 ubiquinol cytochrome c reductase core protein 2 ISO ClinVar Annotator: match by term: Mitochondrial complex III deficiency, nuclear type 5 OMIM
ClinVar
PMID:23281071, PMID:25741868, PMID:28275242 NCBI chr 1:190,555,177...190,585,741
Ensembl chr 1:190,555,177...190,585,734
JBrowse link
mitochondrial complex III deficiency nuclear type 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyc1 cytochrome c-1 ISO ClinVar Annotator: match by term: Mitochondrial complex III deficiency, nuclear type 6
ClinVar Annotator: match by OMIM:615453
OMIM
ClinVar
PMID:23910460 NCBI chr 7:117,409,576...117,411,953
Ensembl chr 7:117,409,576...117,411,953
JBrowse link
mitochondrial complex III deficiency nuclear type 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uqcc2 ubiquinol-cytochrome c reductase complex assembly factor 2 ISO ClinVar Annotator: match by term: Mitochondrial complex III deficiency, nuclear type 7 OMIM
ClinVar
PMID:24385928 NCBI chr20:5,712,200...5,723,902
Ensembl chr20:5,712,203...5,723,902
JBrowse link
mitochondrial complex III deficiency nuclear type 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lyrm7 LYR motif containing 7 ISO ClinVar Annotator: match by term: Mitochondrial complex III deficiency, nuclear type 8
ClinVar Annotator: match by OMIM:615838
OMIM
ClinVar
PMID:24014394, PMID:25741868, PMID:26912632 NCBI chr10:40,183,061...40,201,992
Ensembl chr10:40,183,078...40,201,992
JBrowse link
mitochondrial complex III deficiency nuclear type 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uqcc3 ubiquinol-cytochrome c reductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Mitochondrial complex III deficiency, nuclear type 9 OMIM
ClinVar
PMID:25008109 NCBI chr 1:225,076,301...225,077,079
Ensembl chr 1:225,076,301...225,077,079
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        mitochondrial metabolism disease 345
          mitochondrial complex III deficiency 14
            Mitochondrial Complex III Deficiency Nuclear Type 10 1
            mitochondrial complex III deficiency nuclear type 1 12
            mitochondrial complex III deficiency nuclear type 2 2
            mitochondrial complex III deficiency nuclear type 3 1
            mitochondrial complex III deficiency nuclear type 4 2
            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 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            mitochondrial metabolism disease 345
              mitochondrial complex III deficiency 14
                Mitochondrial Complex III Deficiency Nuclear Type 10 1
                mitochondrial complex III deficiency nuclear type 1 12
                mitochondrial complex III deficiency nuclear type 2 2
                mitochondrial complex III deficiency nuclear type 3 1
                mitochondrial complex III deficiency nuclear type 4 2
                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.