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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 13
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Accession:DOID:0111467 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency characterized by development of severe neurological impairment in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the PNPT1 gene on chromosome 2p16.1. (DO)
Synonyms:exact_synonym: COXPD13
 primary_id: OMIM:614932


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combined oxidative phosphorylation deficiency 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpt1 polyribonucleotide nucleotidyltransferase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 13		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:11080643 PMID:16199547 PMID:17576681 PMID:23084291 More... NCBI chr14:102,877,553...102,908,696
Ensembl chr14:102,877,553...102,908,696 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        mitochondrial metabolism disease 812
          combined oxidative phosphorylation deficiency 72
            combined oxidative phosphorylation deficiency 13 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14398
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13415
        genetic disease 13034
          monogenic disease 10418
            autosomal genetic disease 9576
              autosomal recessive disease 6655
                combined oxidative phosphorylation deficiency 13 1
paths to the root