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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 51
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Accession:DOID:0112137 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in PTCD3 on chromosome 2p11.2. (DO)
Synonyms:exact_synonym: COXPD51
 primary_id: OMIM:619057
For additional species annotation, visit the Alliance of Genome Resources.



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combined oxidative phosphorylation deficiency 51 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptcd3 Pentatricopeptide repeat domain 3 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 51 OMIM
ClinVar
PMID:25741868 PMID:30607703 NCBI chr 4:103,922,440...103,957,445
Ensembl chr 4:103,920,566...103,957,538
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18213
    Nutritional and Metabolic Diseases 6779
      disease of metabolism 6779
        mitochondrial metabolism disease 444
          combined oxidative phosphorylation deficiency 84
            combined oxidative phosphorylation deficiency 51 1
Path 2
Term Annotations click to browse term
  disease 18213
    Developmental Disease 13067
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11803
        genetic disease 11314
          monogenic disease 8883
            autosomal genetic disease 7925
              autosomal recessive disease 4931
                combined oxidative phosphorylation deficiency 51 1
paths to the root