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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 38
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Accession:DOID:0111466 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS14 gene on chromosome 1q25.1. (DO)
Synonyms:exact_synonym: COXPD38
 primary_id: OMIM:618378
 xref: MONDO:0032712


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combined oxidative phosphorylation deficiency 38 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps14 mitochondrial ribosomal protein S14 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 38 ClinVar
OMIM		 PMID:30358850 NCBI chr13:72,429,168...72,434,915
Ensembl chr13:72,408,558...72,434,915 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8235
      disease of metabolism 8235
        mitochondrial metabolism disease 811
          combined oxidative phosphorylation deficiency 73
            combined oxidative phosphorylation deficiency 38 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          monogenic disease 10362
            autosomal genetic disease 9515
              autosomal recessive disease 6581
                combined oxidative phosphorylation deficiency 38 1
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