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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
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:23892085 PMID:24033266 PMID:24655110 PMID:25326637 PMID:25741868 PMID:25895478 PMID:25914718 PMID:26467025 PMID:27959697 PMID:28322498 PMID:28492532 PMID:28496993 PMID:29090881 PMID:30582773 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 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:25887401 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 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 PMID:25741868 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 17126
    Nutritional and Metabolic Diseases 5513
      disease of metabolism 5513
        mitochondrial metabolism disease 388
          mitochondrial complex III deficiency 13
            Mitochondrial Complex III Deficiency Nuclear Type 10 1
            mitochondrial complex III deficiency nuclear type 1 11
            mitochondrial complex III deficiency nuclear type 2 2
            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 17126
    Developmental Disease 10894
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
        genetic disease 8941
          inherited metabolic disorder 2606
            mitochondrial metabolism disease 388
              mitochondrial complex III deficiency 13
                Mitochondrial Complex III Deficiency Nuclear Type 10 1
                mitochondrial complex III deficiency nuclear type 1 11
                mitochondrial complex III deficiency nuclear type 2 2
                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