Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:nuclear type mitochondrial complex I deficiency 32
go back to main search page
Accession:DOID:0112080 term browser browse the term
Definition:A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB8 gene on chromosome 10q24.31. (DO)
Synonyms:exact_synonym: MC1DN32
 primary_id: OMIM:618252



show annotations for term's descendants           Sort by:
nuclear type mitochondrial complex I deficiency 32 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 IAGP ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 ClinVar
OMIM
PMID:25741868 PMID:28492532 PMID:29429571 NCBI chr10:100,523,729...100,529,923
Ensembl chr10:100,523,740...100,530,000
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40760
    Nutritional and Metabolic Diseases 10547
      disease of metabolism 10547
        mitochondrial metabolism disease 1230
          mitochondrial complex I deficiency 123
            nuclear type mitochondrial complex I deficiency 75
              nuclear type mitochondrial complex I deficiency 32 1
Path 2
Term Annotations click to browse term
  disease 40760
    Developmental Disease 36035
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33173
        genetic disease 32754
          inherited metabolic disorder 7844
            mitochondrial metabolism disease 1230
              mitochondrial complex I deficiency 123
                nuclear type mitochondrial complex I deficiency 75
                  nuclear type mitochondrial complex I deficiency 32 1
paths to the root