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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 29
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Accession:DOID:0111501 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TXN2 gene on chromosome 22q12.3. (DO)
Synonyms:exact_synonym: COXPD29
 primary_id: OMIM:616811

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combined oxidative phosphorylation deficiency 29 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Txn2 thioredoxin 2 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 29 OMIM
ClinVar		 PMID:25741868 PMID:26626369 PMID:28492532 NCBI chrNW_004936492:4,310,394...4,320,714
Ensembl chrNW_004936492:4,311,287...4,321,763 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Nutritional and Metabolic Diseases 6783
      disease of metabolism 6783
        mitochondrial metabolism disease 772
          combined oxidative phosphorylation deficiency 73
            combined oxidative phosphorylation deficiency 29 1
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          monogenic disease 9607
            autosomal genetic disease 8891
              autosomal recessive disease 6218
                combined oxidative phosphorylation deficiency 29 1
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