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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 22
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Accession:DOID:0111498 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in ATP5A1 on chromosome 18q21.1. (DO)
Synonyms:exact_synonym: COXPD22
 primary_id: OMIM:616045
For additional species annotation, visit the Alliance of Genome Resources.



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combined oxidative phosphorylation deficiency 22 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5f1a ATP synthase F1 subunit alpha ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 22 OMIM
ClinVar
PMID:23596069 PMID:25741868 NCBI chr18:71,292,406...71,300,342
Ensembl chr18:71,292,374...71,300,794
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    Nutritional and Metabolic Diseases 6747
      disease of metabolism 6747
        mitochondrial metabolism disease 440
          combined oxidative phosphorylation deficiency 82
            combined oxidative phosphorylation deficiency 22 1
Path 2
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11550
        genetic disease 11085
          monogenic disease 8558
            autosomal genetic disease 7555
              autosomal recessive disease 4613
                combined oxidative phosphorylation deficiency 22 1
paths to the root