Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References FTP Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer ACP Haplotyper Genome Scanner
Aging & Age-Related Disease Cancer Cardiovascular Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Genetic Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

ONTOLOGY REPORT - ANNOTATIONS
Term:fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3
go back to main search page
Accession:DOID:0080359 term browser browse the term
Definition:A fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency that has_material_basis_in homozygous mutation in the COA5 gene on chromosome 2q11. (DO)
Synonyms:exact_synonym: CEMCOX3;   fatal infantile cardioencephalomyopathy due to cytochrome c oxidase (COX) deficiency-3
 primary_id: OMIM:616500
 alt_id: RDO:9001383
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants       view all columns           Sort by:
 
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coa5 cytochrome C oxidase assembly factor 5 JBrowse link 9 44,011,471 44,024,876 RGD:8554872
RGD:7240710
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        mitochondrial metabolism disease 307
          cytochrome-c oxidase deficiency disease 27
            fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4
              fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        peripheral nervous system disease 2125
          neuropathy 1948
            neuromuscular disease 1520
              muscular disease 957
                muscle tissue disease 684
                  myopathy 549
                    mitochondrial myopathy 75
                      mitochondrial encephalomyopathy 46
                        fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4
                          fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3 1
paths to the root

Contact Us |  About Us |  License CC BY 4.0 |  Legal Disclaimer |  © Medical College of Wisconsin
NHLBI Logo

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