Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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
 primary_id: OMIM:615119
 alt_id: RDO:9000209
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 OMIM:615119
ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
ClinVar
OMIM
PMID:2175025, PMID:12474143, PMID:15235026, PMID:21412973, PMID:25741868, PMID:28492532 NCBI chr 1:263,494,850...263,511,510
Ensembl chr 1:263,494,852...263,511,505
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        mitochondrial metabolism disease 333
          cytochrome-c oxidase deficiency disease 27
            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 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        peripheral nervous system disease 2472
          neuropathy 2293
            neuromuscular disease 1775
              muscular disease 1196
                muscle tissue disease 809
                  myopathy 665
                    mitochondrial myopathy 89
                      mitochondrial encephalomyopathy 51
                        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

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.