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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
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    Nutritional and Metabolic Diseases 5527
      disease of metabolism 5527
        mitochondrial metabolism disease 392
          mitochondrial complex III deficiency 13
            mitochondrial complex III deficiency nuclear type 1 11
Path 2
Term Annotations click to browse term
  disease 17150
    Developmental Disease 10920
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9451
        genetic disease 8954
          inherited metabolic disorder 2615
            mitochondrial metabolism disease 392
              mitochondrial complex III deficiency 13
                mitochondrial complex III deficiency nuclear type 1 11
paths to the root