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combined oxidative phosphorylation deficiency 30 - 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 30
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Accession:DOID:0111471 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT10C gene on chromosome 3q12.3. (DO)
Synonyms:exact_synonym: COXPD30;   TRMT10C-RELATED CONDITION
 primary_id: MIM:616974
 xref: EFO:0009038;   ORDO:478042

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combined oxidative phosphorylation deficiency 30 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trmt10c tRNA methyltransferase 10C, mitochondrial RNase P subunit ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 30 | ClinVar Annotator: match by term: TRMT10C-related condition OMIM
ClinVar		 PMID:25741868 PMID:27132592 PMID:28492532 PMID:33886802 PMID:34489609 NCBI chr11:44,584,388...44,589,466
Ensembl chr11:44,584,113...44,589,568 		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 30 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 30 1
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