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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 TRMT5 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: ORDO:477684
For additional species annotation, visit the Alliance of Genome Resources.



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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 6:91,963,558...91,987,660
Ensembl chr 6:91,943,724...91,987,555
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    Nutritional and Metabolic Diseases 6770
      disease of metabolism 6770
        mitochondrial metabolism disease 442
          combined oxidative phosphorylation deficiency 83
            combined oxidative phosphorylation deficiency 26 1
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          monogenic disease 8709
            autosomal genetic disease 7745
              autosomal recessive disease 4832
                combined oxidative phosphorylation deficiency 26 1
paths to the root