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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



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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 chr14:29,659,027...29,726,756
Ensembl chr14:29,659,034...29,724,461
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G MTRFR mitochondrial translation release factor in rescue ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 OMIM
ClinVar
PMID:20598281 PMID:23188110 PMID:24033266 PMID:24284555 PMID:24424123 More... NCBI chr14:29,644,945...29,658,906
Ensembl chr14:29,645,603...29,658,899
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17416
    Nutritional and Metabolic Diseases 7072
      disease of metabolism 7072
        mitochondrial metabolism disease 793
          combined oxidative phosphorylation deficiency 71
            combined oxidative phosphorylation deficiency 7 2
Path 2
Term Annotations click to browse term
  disease 17416
    disease of anatomical entity 14866
      nervous system disease 12941
        peripheral nervous system disease 3975
          neuropathy 3784
            neuromuscular disease 2970
              muscular disease 2079
                muscle tissue disease 1255
                  myopathy 969
                    mitochondrial myopathy 121
                      mitochondrial encephalomyopathy 78
                        combined oxidative phosphorylation deficiency 7 2
paths to the root