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mitochondrial complex IV deficiency nuclear type 6 - Ontology Report - Rat Genome Database

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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;   COX15-RELATED CONDITION;   MC4DN6;   fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2
 primary_id: MIM: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 LOC101959085 cytochrome c oxidase assembly protein COX15 homolog ISO ClinVar Annotator: match by term: COX15-related condition | 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 chrNW_004936636:385,198...401,090
Ensembl chrNW_004936636:385,018...401,851 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14638
    Nutritional and Metabolic Diseases 7079
      disease of metabolism 7079
        mitochondrial metabolism disease 779
          cytochrome-c oxidase deficiency disease 203
            COX deficiency, infantile mitochondrial myopathy 6
              mitochondrial complex IV deficiency nuclear type 6 1
Path 2
Term Annotations click to browse term
  disease 14638
    disease of anatomical entity 14327
      nervous system disease 12614
        peripheral nervous system disease 4151
          neuropathy 3973
            neuromuscular disease 3059
              muscular disease 2125
                muscle tissue disease 1286
                  myopathy 991
                    mitochondrial myopathy 86
                      mitochondrial encephalomyopathy 45
                        COX deficiency, infantile mitochondrial myopathy 6
                          mitochondrial complex IV deficiency nuclear type 6 1
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