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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 PNPT1 on chromosome 2p16.1. (DO)
Synonyms:exact_synonym: COXPD13
 primary_id: OMIM:614932
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:614932
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 13
OMIM
ClinVar
PMID:11080643 PMID:23084291 PMID:24088041 PMID:25326635 PMID:25457163 PMID:25741868 PMID:26633545 PMID:27759031 PMID:28492532 PMID:30046113 PMID:32313153 NCBI chr14:113,530,470...113,561,645
Ensembl chr14:113,530,470...113,561,645
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Nutritional and Metabolic Diseases 4739
      disease of metabolism 4739
        mitochondrial metabolism disease 348
          combined oxidative phosphorylation deficiency 58
            combined oxidative phosphorylation deficiency 13 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal recessive disease 2628
                combined oxidative phosphorylation deficiency 13 1
paths to the root