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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 3
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Accession:DOID:0111486 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TSFM gene on chromosome 12q14.1. (DO)
Synonyms:exact_synonym: COXPD3;   concentric cardiomyopathy, hypotonia, and lactic acidosis;   encephalomyopathy, respiratory failure, and lactic acidosis;   fatal mitochondrial disease due to COXPD3;   fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
 primary_id: MESH:C566467
 alt_id: OMIM:610505
 xref: ORDO:168566

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combined oxidative phosphorylation deficiency 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avil advillin ISO ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ClinVar PMID:25741868 NCBI chrNW_004936646:1,930,447...1,952,069
Ensembl chrNW_004936646:1,930,656...1,948,991 		JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 3 | ClinVar Annotator: match by term: ENCEPHALOMYOPATHY, RESPIRATORY FAILURE, AND LACTIC ACIDOSIS | ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17033963 PMID:17576681 PMID:20435138 More... NCBI chrNW_004936646:1,919,326...1,936,694
Ensembl chrNW_004936646:1,908,304...1,930,287 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Nutritional and Metabolic Diseases 6781
      disease of metabolism 6781
        mitochondrial metabolism disease 770
          combined oxidative phosphorylation deficiency 73
            combined oxidative phosphorylation deficiency 3 2
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      nervous system disease 12340
        peripheral nervous system disease 3883
          neuropathy 3701
            neuromuscular disease 2898
              muscular disease 2042
                muscle tissue disease 1225
                  myopathy 949
                    mitochondrial myopathy 110
                      combined oxidative phosphorylation deficiency 3 2
paths to the root