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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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        mitochondrial metabolism disease 345
          combined oxidative phosphorylation deficiency 56
            combined oxidative phosphorylation deficiency 15 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal recessive disease 2601
                combined oxidative phosphorylation deficiency 15 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.