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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 9
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Accession:DOID:0080118 term browser browse the term
Definition:A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCC3 gene on chromosome 11q12. (DO)
Synonyms:exact_synonym: MC3DN9
 primary_id: OMIM:616111
For additional species annotation, visit the Alliance of Genome Resources.


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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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17147
    Nutritional and Metabolic Diseases 5523
      disease of metabolism 5523
        mitochondrial metabolism disease 391
          mitochondrial complex III deficiency 13
            mitochondrial complex III deficiency nuclear type 9 1
Path 2
Term Annotations click to browse term
  disease 17147
    Developmental Disease 10919
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9449
        genetic disease 8952
          inherited metabolic disorder 2614
            mitochondrial metabolism disease 391
              mitochondrial complex III deficiency 13
                mitochondrial complex III deficiency nuclear type 9 1
paths to the root