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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 nuclear type 1
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Accession:DOID:0080111 term browser browse the term
Definition:A mitochondrial complex III deficiency characterized by onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development and that has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded BCS1L gene on chromosome 2q35. (DO)
Synonyms:exact_synonym: MC3DN1
 broad_synonym: BCS1L-related disorder;   DECREASED ACTIVITY OF MITOCHONDRIAL COMPLEX III
 primary_id: MESH:C565128
 alt_id: OMIM:124000


show annotations for term's descendants           Sort by:
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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:124000
ClinVar Annotator: match by term: Decreased activity of mitochondrial complex III | ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 1		 OMIM
CTD
MouseDO
ClinVar		 PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 More... NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938 		JBrowse link
G Cyc1 cytochrome c-1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:108,067,106...108,069,483
Ensembl chr 7:108,067,115...108,069,479 		JBrowse link
G Lyrm7 LYR motif containing 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 1		 CTD
ClinVar		 PMID:25741868 PMID:36757047 NCBI chr10:38,964,299...38,983,628
Ensembl chr10:38,964,311...38,983,601 		JBrowse link
G Ncor1 nuclear receptor co-repressor 1 ISO ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 1 ClinVar NCBI chr10:46,999,536...47,142,294
Ensembl chr10:46,999,536...47,141,032 		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 chr10:46,969,723...46,997,607
Ensembl chr10:46,969,727...46,997,789 		JBrowse link
G Uqcc2 ubiquinol-cytochrome c reductase complex assembly factor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:5,202,837...5,214,541
Ensembl chr20:5,202,837...5,214,164 		JBrowse link
G Uqcc3 ubiquinol-cytochrome c reductase complex assembly factor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:205,773,591...205,774,369
Ensembl chr 1:205,772,780...205,774,376 		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 PMID:25446085 PMID:28492532 PMID:28604960 NCBI chr 7:63,814,784...63,820,150
Ensembl chr 7:63,814,797...63,820,150 		JBrowse link
G Uqcrc2 ubiquinol cytochrome c reductase core protein 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:175,167,933...175,198,499
Ensembl chr 1:175,167,894...175,199,453 		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 chr10:37,585,864...37,589,328
Ensembl chr10:37,586,888...37,589,169 		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 chr10:46,953,311...46,969,800
Ensembl chr10:46,957,525...46,969,671 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    Nutritional and Metabolic Diseases 8236
      disease of metabolism 8236
        mitochondrial metabolism disease 813
          mitochondrial complex III deficiency 14
            mitochondrial complex III deficiency nuclear type 1 11
Path 2
Term Annotations click to browse term
  disease 21126
    Developmental Disease 18447
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18306
        genetic disease 18250
          inherited metabolic disorder 6213
            mitochondrial metabolism disease 813
              mitochondrial complex III deficiency 14
                mitochondrial complex III deficiency nuclear type 1 11
paths to the root