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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 9
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Accession:DOID:0080359 term browser browse the term
Definition:A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COA5 gene on chromosome 2q11. (DO)
Synonyms:exact_synonym: CEMCOX3;   MC4DN9;   fatal infantile cardioencephalomyopathy due to cytochrome c oxidase (COX) deficiency-3;   fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3
 primary_id: OMIM:616500


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mitochondrial complex IV deficiency nuclear type 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coa5 cytochrome C oxidase assembly factor 5 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 ClinVar
OMIM		 PMID:21457908 NCBI chr 9:39,651,459...39,664,870 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
        Metabolic Brain Diseases 1487
          mitochondrial encephalomyopathy 78
            COX deficiency, infantile mitochondrial myopathy 5
              mitochondrial complex IV deficiency nuclear type 9 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        peripheral nervous system disease 4107
          neuropathy 3892
            neuromuscular disease 3051
              muscular disease 2141
                muscle tissue disease 1288
                  myopathy 1003
                    mitochondrial myopathy 123
                      mitochondrial encephalomyopathy 78
                        COX deficiency, infantile mitochondrial myopathy 5
                          mitochondrial complex IV deficiency nuclear type 9 1
paths to the root