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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 15
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Accession:DOID:0111491 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation] in MTFMT on chromosome 15q22.31. (DO)
Synonyms:exact_synonym: COXPD15
 primary_id: OMIM:614947
 alt_id: RDO:9000134
 xref: ORDO:319524
For additional species annotation, visit the Alliance of Genome Resources.


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combined oxidative phosphorylation deficiency 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by OMIM:614947
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 15
OMIM
ClinVar
PMID:21907147 PMID:22499348 PMID:23499752 PMID:24088041 PMID:24123792 PMID:24461907 PMID:25058219 PMID:25288793 PMID:25326635 PMID:25326637 PMID:25741868 PMID:25911677 PMID:26060307 PMID:26633545 PMID:27290639 PMID:28058511 PMID:28492532 PMID:30311386 NCBI chr 8:70,952,209...70,986,393
Ensembl chr 8:70,952,203...70,986,408
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Nutritional and Metabolic Diseases 4739
      disease of metabolism 4739
        mitochondrial metabolism disease 348
          combined oxidative phosphorylation deficiency 58
            combined oxidative phosphorylation deficiency 15 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal recessive disease 2628
                combined oxidative phosphorylation deficiency 15 1
paths to the root