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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:mitochondrial complex IV deficiency nuclear type 3
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Accession:DOID:0070492 term browser browse the term
Definition:A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX10 gene on chromosome 17p12. (DO)
Synonyms:exact_synonym: MC4DN3
 primary_id: MIM:619046
 alt_id: DOID:9005748


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mitochondrial complex IV deficiency nuclear type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 OMIM
ClinVar		 PMID:10767350 PMID:12928484 PMID:15455402 PMID:22669974 PMID:23665194 More... NCBI chr10:49,130,209...49,242,009
Ensembl chr10:49,130,209...49,242,009 		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
          cytochrome-c oxidase deficiency disease 234
            COX deficiency, benign infantile mitochondrial myopathy 43
              mitochondrial complex IV deficiency nuclear type 3 1
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          inherited metabolic disorder 6673
            mitochondrial metabolism disease 836
              cytochrome-c oxidase deficiency disease 234
                COX deficiency, benign infantile mitochondrial myopathy 43
                  mitochondrial complex IV deficiency nuclear type 3 1
paths to the root