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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 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        mitochondrial metabolism disease 345
          combined oxidative phosphorylation deficiency 56
            combined oxidative phosphorylation deficiency 3 2
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        peripheral nervous system disease 2500
          neuropathy 2320
            neuromuscular disease 1805
              muscular disease 1223
                muscle tissue disease 830
                  myopathy 686
                    mitochondrial myopathy 91
                      combined oxidative phosphorylation deficiency 3 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.