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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:combined oxidative phosphorylation deficiency 7
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Accession:DOID:0111487 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C12orf65 on chromosome 12q24.31. (DO)
Synonyms:exact_synonym: COXPD7;   severe C12ORF65-related COXPD;   severe C12ORF65-related combined oxidative phosphorylation defect
 primary_id: OMIM:613559
 xref: ORDO:254930
For additional species annotation, visit the Alliance of Genome Resources.


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combined oxidative phosphorylation deficiency 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mphosph9 M-phase phosphoprotein 9 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 ClinVar NCBI chr12:37,700,282...37,766,487
Ensembl chr12:37,702,404...37,768,957
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G RGD1563482 similar to hypothetical protein FLJ38663 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 OMIM
ClinVar
PMID:20598281, PMID:24033266, PMID:24284555, PMID:24424123, PMID:25326635, PMID:25741868, PMID:26539891, PMID:27858754, PMID:28492532, PMID:32581362 NCBI chr12:37,680,152...37,682,994
Ensembl chr12:37,677,019...37,699,616
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    Nutritional and Metabolic Diseases 4713
      disease of metabolism 4713
        mitochondrial metabolism disease 333
          combined oxidative phosphorylation deficiency 52
            combined oxidative phosphorylation deficiency 7 2
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        peripheral nervous system disease 2471
          neuropathy 2292
            neuromuscular disease 1774
              muscular disease 1196
                muscle tissue disease 809
                  myopathy 665
                    mitochondrial myopathy 89
                      mitochondrial encephalomyopathy 51
                        combined oxidative phosphorylation deficiency 7 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.