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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 6
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Accession:DOID:0080358 term browser browse the term
Definition:A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COX15 gene on chromosome 10q24. (DO)
Synonyms:exact_synonym: CEMCOX2;   MC4DN6;   fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2
 primary_id: OMIM:615119


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mitochondrial complex IV deficiency nuclear type 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COX15 cytochrome c oxidase assembly homolog COX15 IAGP ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 OMIM
ClinVar		 PMID:2175025 PMID:9536098 PMID:12474143 PMID:15235026 PMID:15863660 More... NCBI chr10:99,694,293...99,732,127
Ensembl chr10:99,710,868...99,732,127 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Nutritional and Metabolic Diseases 10568
      disease of metabolism 10568
        Metabolic Brain Diseases 1856
          mitochondrial encephalomyopathy 119
            COX deficiency, infantile mitochondrial myopathy 9
              mitochondrial complex IV deficiency nuclear type 6 1
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        peripheral nervous system disease 5382
          neuropathy 5129
            neuromuscular disease 4041
              muscular disease 2807
                muscle tissue disease 1715
                  myopathy 1391
                    mitochondrial myopathy 179
                      mitochondrial encephalomyopathy 119
                        COX deficiency, infantile mitochondrial myopathy 9
                          mitochondrial complex IV deficiency nuclear type 6 1
paths to the root