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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:fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2
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Accession:DOID:0080358 term browser browse the term
Definition:A fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency that has_material_basis_in compound heterozygous mutation in the COX15 gene on chromosome 10q24. (DO)
Synonyms:exact_synonym: CEMCOX2;   MC4DN6;   mitochondrial complex IV deficiency, nuclear type 6
 primary_id: OMIM:615119
For additional species annotation, visit the Alliance of Genome Resources.



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fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox15 cytochrome c oxidase assembly homolog COX15 ISO 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 chr 1:242,605,588...242,622,279
Ensembl chr 1:242,605,588...242,622,261
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    Nutritional and Metabolic Diseases 6817
      disease of metabolism 6817
        mitochondrial metabolism disease 451
          cytochrome-c oxidase deficiency disease 29
            fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 5
              fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2 1
Path 2
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      nervous system disease 13267
        peripheral nervous system disease 3065
          neuropathy 2847
            neuromuscular disease 2237
              muscular disease 1465
                muscle tissue disease 959
                  myopathy 787
                    mitochondrial myopathy 111
                      mitochondrial encephalomyopathy 68
                        fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 5
                          fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2 1
paths to the root