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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 the TIMM22 gene on chromosome 17p13.3. (DO)
Synonyms:exact_synonym: COXPD43
 primary_id: MIM:618851


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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 chr11:76,297,751...76,307,139
Ensembl chr11:76,297,778...76,307,118 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16112
    Nutritional and Metabolic Diseases 7426
      disease of metabolism 7426
        mitochondrial metabolism disease 848
          combined oxidative phosphorylation deficiency 73
            combined oxidative phosphorylation deficiency 43 1
Path 2
Term Annotations click to browse term
  disease 16112
    Developmental Disease 13793
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12803
        genetic disease 12448
          monogenic disease 10450
            autosomal genetic disease 9631
              autosomal recessive disease 6719
                combined oxidative phosphorylation deficiency 43 1
paths to the root