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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 3
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Accession:DOID:0080112 term browser browse the term
Definition:A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRB gene on chromosome 8q22. (DO)
Synonyms:exact_synonym: MC3DN3
 primary_id: OMIM:615158
For additional species annotation, visit the Alliance of Genome Resources.


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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 7:63,814,784...63,820,150 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17160
    Nutritional and Metabolic Diseases 5532
      disease of metabolism 5532
        mitochondrial metabolism disease 392
          mitochondrial complex III deficiency 13
            mitochondrial complex III deficiency nuclear type 3 1
Path 2
Term Annotations click to browse term
  disease 17160
    Developmental Disease 10925
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9458
        genetic disease 8960
          inherited metabolic disorder 2622
            mitochondrial metabolism disease 392
              mitochondrial complex III deficiency 13
                mitochondrial complex III deficiency nuclear type 3 1
paths to the root