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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 4
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Accession:DOID:0080113 term browser browse the term
Definition:A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRQ gene on chromosome 5q31. (DO)
Synonyms:exact_synonym: MC3DN4
 primary_id: OMIM:615159
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:615159
ClinVar Annotator: match by term: Mitochondrial complex III deficiency, nuclear type 4
OMIM
ClinVar
PMID:18439546 PMID:25741868 PMID:28492532 NCBI chr10:38,779,132...38,782,489
Ensembl chr10:38,779,132...38,782,419
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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 4 1
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 4 1
paths to the root