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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 32
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Accession:DOID:0111492 term browser browse the term
Definition:An autosomal recessive neurodegenerative disorder characterized by onset of delayed psychomotor development and developmental regression in infancy. Patient cells showed decreased activities of mitochondrial respiratory chain complexes, I, III, and IV, as well as impaired mitochondrial translation. (OMIM)
Synonyms:exact_synonym: COXPD32
 primary_id: OMIM:617664
For additional species annotation, visit the Alliance of Genome Resources.


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combined oxidative phosphorylation deficiency 32 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 32
ClinVar
OMIM
PMID:2877793, PMID:25741868, PMID:28492532, PMID:28777931 NCBI chr10:14,257,001...14,258,132
Ensembl chr10:14,257,001...14,258,132
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        mitochondrial metabolism disease 333
          combined oxidative phosphorylation deficiency 52
            combined oxidative phosphorylation deficiency 32 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                combined oxidative phosphorylation deficiency 32 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.