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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 48
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Accession:DOID:0112112 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NSUN3 on chromosome 3q11.2. (DO)
Synonyms:exact_synonym: COXPD48
 primary_id: OMIM:619012
For additional species annotation, visit the Alliance of Genome Resources.



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combined oxidative phosphorylation deficiency 48 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsun3 NOP2/Sun RNA methyltransferase 3 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 48 OMIM
ClinVar
PMID:27356879 PMID:32671698 NCBI chr11:37,490,832...37,575,607
Ensembl chr11:37,490,838...37,568,543
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    Nutritional and Metabolic Diseases 6780
      disease of metabolism 6780
        mitochondrial metabolism disease 445
          combined oxidative phosphorylation deficiency 84
            combined oxidative phosphorylation deficiency 48 1
Path 2
Term Annotations click to browse term
  disease 18215
    Developmental Disease 13068
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11804
        genetic disease 11315
          monogenic disease 8884
            autosomal genetic disease 7927
              autosomal recessive disease 4932
                combined oxidative phosphorylation deficiency 48 1
paths to the root