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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;   MRPS34-RELATED CONDITION
 primary_id: MIM: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 Annotator: match by term: MRPS34-related condition ClinVar PMID:25741868 PMID:25954003 PMID:27618451 PMID:28490743 PMID:28492532 More... NCBI chr10:14,413,661...14,420,489
Ensembl chr10:14,417,735...14,420,489 		JBrowse link
G Mrps34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 32 | ClinVar Annotator: match by term: MRPS34-related condition OMIM
ClinVar		 PMID:2877793 PMID:25741868 PMID:25954003 PMID:27618451 PMID:28490743 More... NCBI chr10:14,420,543...14,421,674
Ensembl chr10:14,408,136...14,421,771 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Nutritional and Metabolic Diseases 8574
      disease of metabolism 8574
        mitochondrial metabolism disease 836
          combined oxidative phosphorylation deficiency 73
            combined oxidative phosphorylation deficiency 32 2
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal recessive disease 7090
                combined oxidative phosphorylation deficiency 32 2
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