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 4
go back to main search page
Accession:DOID:0112082 term browser browse the term
Definition:A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFV1 on chromosome 11q13.2. (DO)
Synonyms:exact_synonym: MC1DN4;   NDUFV1-RELATED DISORDER;   NDUFV1-RELATED DISORDERS
 primary_id: OMIM:618225
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
nuclear type mitochondrial complex I deficiency 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 | ClinVar Annotator: match by term: NDUFV1-Related Disorders OMIM
ClinVar
PMID:9536098 PMID:10080174 PMID:11349233 PMID:11494300 PMID:15576045 More... NCBI chr 1:201,300,365...201,305,461
Ensembl chr 1:201,299,985...201,305,466
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    Nutritional and Metabolic Diseases 6730
      disease of metabolism 6730
        mitochondrial metabolism disease 419
          mitochondrial complex I deficiency 63
            nuclear type mitochondrial complex I deficiency 49
              nuclear type mitochondrial complex I deficiency 4 1
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          inherited metabolic disorder 4644
            mitochondrial metabolism disease 419
              mitochondrial complex I deficiency 63
                nuclear type mitochondrial complex I deficiency 49
                  nuclear type mitochondrial complex I deficiency 4 1
paths to the root