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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 43
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Accession:DOID:0112116 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TIMM22 on chromosome 17p13.3. (DO)
Synonyms:exact_synonym: COXPD43
 primary_id: OMIM:618851
For additional species annotation, visit the Alliance of Genome Resources.



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combined oxidative phosphorylation deficiency 43 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Timm22 translocase of inner mitochondrial membrane 22 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 43 OMIM
ClinVar
PMID:22638997 PMID:25741868 PMID:30452684 NCBI chr10:61,253,459...61,261,217
Ensembl chr10:61,253,450...61,261,755
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    Nutritional and Metabolic Diseases 6769
      disease of metabolism 6769
        mitochondrial metabolism disease 442
          combined oxidative phosphorylation deficiency 83
            combined oxidative phosphorylation deficiency 43 1
Path 2
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          monogenic disease 8779
            autosomal genetic disease 7817
              autosomal recessive disease 4835
                combined oxidative phosphorylation deficiency 43 1
paths to the root