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combined oxidative phosphorylation deficiency 9 - Ontology Report - Rat Genome Database

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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;   MRPL3-RELATED CONDITION
 primary_id: MIM: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 | ClinVar Annotator: match by term: MRPL3-related condition OMIM
ClinVar		 PMID:21786366 PMID:25741868 PMID:27815843 PMID:28492532 NCBI chr 8:114,548,970...114,572,330
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 19140
    Nutritional and Metabolic Diseases 8545
      disease of metabolism 8545
        mitochondrial metabolism disease 820
          combined oxidative phosphorylation deficiency 72
            combined oxidative phosphorylation deficiency 9 1
Path 2
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10964
            autosomal genetic disease 10452
              autosomal recessive disease 7136
                combined oxidative phosphorylation deficiency 9 1
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