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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 9
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Accession:DOID:0111472 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL3 gene on chromosome 3q22.1. (DO)
Synonyms:exact_synonym: COXPD9
 primary_id: OMIM:614582
 xref: ORDO:319509


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combined oxidative phosphorylation deficiency 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrpl3 mitochondrial ribosomal protein L3 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 9
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:21786366 PMID:25741868 PMID:27815843 PMID:28492532 NCBI chr 8:105,670,184...105,693,544
Ensembl chr 8:105,670,184...105,693,544 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8237
      disease of metabolism 8237
        mitochondrial metabolism disease 813
          combined oxidative phosphorylation deficiency 73
            combined oxidative phosphorylation deficiency 9 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal recessive disease 6583
                combined oxidative phosphorylation deficiency 9 1
paths to the root