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 25
go back to main search page
Accession:DOID:0112067 term browser browse the term
Definition:A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous and compound heterozygous mutation in NDUFB3 on chromosome 2q33.1. (DO)
Synonyms:exact_synonym: MC1DN25
 primary_id: OMIM:618246
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
nuclear type mitochondrial complex I deficiency 25 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 OMIM
ClinVar
PMID:22277967 PMID:22499348 PMID:25741868 PMID:26795593 PMID:28492532 More... NCBI chr 9:60,129,240...60,139,452
Ensembl chr 9:60,129,154...60,139,446
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    Nutritional and Metabolic Diseases 6769
      disease of metabolism 6769
        mitochondrial metabolism disease 442
          mitochondrial complex I deficiency 64
            nuclear type mitochondrial complex I deficiency 50
              nuclear type mitochondrial complex I deficiency 25 1
Path 2
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          inherited metabolic disorder 4673
            mitochondrial metabolism disease 442
              mitochondrial complex I deficiency 64
                nuclear type mitochondrial complex I deficiency 50
                  nuclear type mitochondrial complex I deficiency 25 1
paths to the root