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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 52
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Accession:DOID:0070425 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency characterized by infantile onset, lactic acidemia, hypotonia, respiratory chain complex II and III deficiency, and multisystem organ failure that has_material_basis_in homozygous mutation in the NFS1 gene on chromosome 20q11. (DO)
Synonyms:exact_synonym: COXPD52
 primary_id: OMIM:619386
 alt_id: DOID:9005483


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combined oxidative phosphorylation deficiency 52 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfs1 NFS1 cysteine desulfurase ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 52 OMIM
ClinVar		 PMID:16199547 PMID:24498631 PMID:25741868 PMID:28492532 PMID:33457206 NCBI chr 3:144,637,309...144,659,660
Ensembl chr 3:144,637,309...144,659,666 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        mitochondrial metabolism disease 812
          combined oxidative phosphorylation deficiency 72
            combined oxidative phosphorylation deficiency 52 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                combined oxidative phosphorylation deficiency 52 1
paths to the root