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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;   TSFM-RELATED CONDITION;   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: MIM: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 chr 7:64,711,294...64,729,436
Ensembl chr 7:64,711,403...64,729,436 		JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | ClinVar Annotator: match by term: TSFM-related condition 		OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17033963 PMID:17576681 PMID:20435138 More... NCBI chr 7:62,828,997...62,864,784
Ensembl chr 7:64,714,036...64,750,171 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Nutritional and Metabolic Diseases 8574
      disease of metabolism 8574
        mitochondrial metabolism disease 836
          combined oxidative phosphorylation deficiency 73
            combined oxidative phosphorylation deficiency 3 2
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        peripheral nervous system disease 4409
          neuropathy 4194
            neuromuscular disease 3236
              muscular disease 2244
                muscle tissue disease 1363
                  myopathy 1058
                    mitochondrial myopathy 99
                      combined oxidative phosphorylation deficiency 3 2
paths to the root