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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 26
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Accession:DOID:0111490 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT5 gene on chromosome 14q23.1. (DO)
Synonyms:exact_synonym: COXPD26;   PNSED;   peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay
 primary_id: OMIM:616539
 xref: EFO:0009036;   ORDO:477684


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combined oxidative phosphorylation deficiency 26 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRMT5 tRNA methyltransferase 5 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 26 | ClinVar Annotator: match by term: PERIPHERAL NEUROPATHY WITH VARIABLE SPASTICITY, EXERCISE INTOLERANCE, AND DEVELOPMENTAL DELAY OMIM
ClinVar		 PMID:2544623 PMID:25741868 PMID:26189817 PMID:28492532 PMID:29021354 More... NCBI chr 1:189,909,654...189,923,308
Ensembl chr 1:189,909,660...189,923,234 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    Nutritional and Metabolic Diseases 7080
      disease of metabolism 7080
        mitochondrial metabolism disease 798
          combined oxidative phosphorylation deficiency 72
            combined oxidative phosphorylation deficiency 26 1
Path 2
Term Annotations click to browse term
  disease 17412
    Developmental Disease 17260
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17174
        genetic disease 17155
          monogenic disease 9978
            autosomal genetic disease 9202
              autosomal recessive disease 6386
                combined oxidative phosphorylation deficiency 26 1
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