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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:A combined oxidative phosphorylation deficiency characterized by onset in infancy of delayed psychomotor development and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS34 gene on chromosome 16p13.3. (DO)
Synonyms:exact_synonym: COXPD32
 primary_id: OMIM:617664


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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 EME2 essential meiotic structure-specific endonuclease subunit 2 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 32 ClinVar PMID:25741868 PMID:28492532 PMID:28777931 PMID:35326425 NCBI chr16:395,571...403,233
Ensembl chr16:1,825,622...1,829,557 		JBrowse link
G MRPS34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 32 OMIM
ClinVar		 PMID:2877793 PMID:25741868 PMID:28492532 PMID:28777931 PMID:32445240 More... NCBI chr16:394,257...395,564
Ensembl chr16:1,824,282...1,825,558 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Nutritional and Metabolic Diseases 7184
      disease of metabolism 7184
        mitochondrial metabolism disease 808
          combined oxidative phosphorylation deficiency 71
            combined oxidative phosphorylation deficiency 32 2
Path 2
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
        genetic disease 17786
          monogenic disease 10253
            autosomal genetic disease 9439
              autosomal recessive disease 6557
                combined oxidative phosphorylation deficiency 32 2
paths to the root