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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:nuclear type mitochondrial complex I deficiency 21
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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.


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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 6:72,781,229...72,786,835
Ensembl chr 6:72,780,543...72,786,830
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 6:72,804,843...72,805,848
Ensembl chr 6:72,804,843...72,805,848
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 6:72,648,654...72,750,202
Ensembl chr 6:72,648,662...72,750,170
JBrowse link
G Nubpl nucleotide binding protein-like ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 ClinVar
OMIM
PMID:20818383 PMID:22072591 PMID:23553477 PMID:23828044 PMID:24088041 PMID:25741868 PMID:26633545 PMID:29982452 PMID:31917109 PMID:32518176 PMID:33224084 NCBI chr 6:72,891,758...73,147,837
Ensembl chr 6:72,891,725...73,148,536
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    Nutritional and Metabolic Diseases 4702
      disease of metabolism 4702
        mitochondrial metabolism disease 349
          mitochondrial complex I deficiency 60
            nuclear type mitochondrial complex I deficiency 47
              nuclear type mitochondrial complex I deficiency 21 4
Path 2
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8436
        genetic disease 7958
          inherited metabolic disorder 2233
            mitochondrial metabolism disease 349
              mitochondrial complex I deficiency 60
                nuclear type mitochondrial complex I deficiency 47
                  nuclear type mitochondrial complex I deficiency 21 4
paths to the root