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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 TSFM 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
For additional species annotation, visit the Alliance of Genome Resources.

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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: Combined oxidative phosphorylation deficiency 3 ClinVar NCBI chr 7:70,292,565...70,310,588
Ensembl chr 7:70,292,565...70,310,588 		JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 3		 OMIM
ClinVar		 PMID:17033963 PMID:20435138 PMID:21119709 PMID:21169334 PMID:21741925 PMID:22277967 PMID:22499341 PMID:25037205 PMID:25741868 PMID:28492532 NCBI chr 7:70,311,948...70,319,389
Ensembl chr 7:70,311,950...70,319,346 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Nutritional and Metabolic Diseases 4739
      disease of metabolism 4739
        mitochondrial metabolism disease 348
          combined oxidative phosphorylation deficiency 58
            combined oxidative phosphorylation deficiency 3 2
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        peripheral nervous system disease 2498
          neuropathy 2319
            neuromuscular disease 1802
              muscular disease 1218
                muscle tissue disease 829
                  myopathy 683
                    mitochondrial myopathy 91
                      combined oxidative phosphorylation deficiency 3 2
paths to the root