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 21
go back to main search page
Accession:DOID:0112088 term browser browse the term
Definition:A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NUBPL on chromosome 14q12. (DO)
Synonyms:exact_synonym: MC1DN21
 primary_id: OMIM:618242
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
nuclear type mitochondrial complex I deficiency 21 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dtd2 D-aminoacyl-tRNA deacylase 2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 ClinVar PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 NCBI chr 6:69,450,146...69,456,430
Ensembl chr 6:69,449,614...69,456,427
JBrowse link
G Gpr33 G protein-coupled receptor 33 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 ClinVar PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 NCBI chr 6:69,474,435...69,475,440
Ensembl chr 6:69,474,435...69,475,440
JBrowse link
G Heatr5a HEAT repeat containing 5A ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 ClinVar PMID:20818383 PMID:22072591 PMID:25741868 PMID:32518176 PMID:33224084 NCBI chr 6:69,321,869...69,419,861
Ensembl chr 6:69,321,869...69,419,773
JBrowse link
G Nubpl NUBP iron-sulfur cluster assembly factor like ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 OMIM
ClinVar
PMID:16199547 PMID:20818383 PMID:22072591 PMID:23553477 PMID:23828044 More... NCBI chr 6:69,559,278...69,781,254
Ensembl chr 6:69,559,291...69,781,253
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 21 4
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 21 4
paths to the root