Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  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 1
go back to main search page
Accession:DOID:0080357 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 SCO2 gene on chromosome 22q13. (DO)
Synonyms:exact_synonym: CEMCOX1;   MC4DN2;   fatal infantile cytochrome c oxidase deficiency with cardioencephalomyopathy;   mitochondrial complex IV deficiency nuclear type 2
 primary_id: MESH:C565784
 alt_id: OMIM:604377
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 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coa5 cytochrome C oxidase assembly factor 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:39,651,459...39,664,870 JBrowse link
G Coa6 cytochrome c oxidase assembly factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:54,395,682...54,398,918
Ensembl chr19:54,395,742...54,399,407
JBrowse link
G Cox15 cytochrome c oxidase assembly homolog COX15 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:242,605,588...242,622,279
Ensembl chr 1:242,605,588...242,622,261
JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 ClinVar PMID:10545952 PMID:10749987 PMID:11673586 PMID:12020273 PMID:14970747 More... NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938
JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 ClinVar PMID:10545952 PMID:10749987 PMID:11673586 PMID:12020273 PMID:12529715 More... NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874
JBrowse link

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 1 5
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 1 5
paths to the root