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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 5
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Accession:DOID:0080114 term browser browse the term
Definition:A mitochondrial complex III deficiency characterized by neonatal onset of severe metabolic acidosis associated with hyperammonemia and hypoglycemia and that has_material_basis_in homozygous mutation in the UQCRC2 gene on chromosome 16p12. (DO)
Synonyms:exact_synonym: MC3DN5
 primary_id: OMIM:615160
For additional species annotation, visit the Alliance of Genome Resources.


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mitochondrial complex III deficiency nuclear type 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdzd9 PDZ domain containing 9 ISO ClinVar Annotator: match by term: Mitochondrial complex III deficiency, nuclear type 5 ClinVar PMID:23281071 PMID:25741868 PMID:28275242 NCBI chr 1:190,584,878...190,604,719
Ensembl chr 1:190,584,883...190,598,122
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G Uqcrc2 ubiquinol cytochrome c reductase core protein 2 ISO ClinVar Annotator: match by term: Mitochondrial complex III deficiency, nuclear type 5 OMIM
ClinVar
PMID:23281071 PMID:25741868 PMID:28275242 NCBI chr 1:190,555,177...190,585,741
Ensembl chr 1:190,555,177...190,585,734
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 5 2
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 5 2
paths to the root