Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes 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 Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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 10
go back to main search page
Accession:DOID:0070496 term browser browse the term
Definition:A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX14 gene on chromosome 12q13.12. (DO)
Synonyms:exact_synonym: MC4DN10
 primary_id: OMIM:619053
 alt_id: DOID:9006390


show annotations for term's descendants           Sort by:
mitochondrial complex IV deficiency nuclear type 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC110260660 cytochrome c oxidase assembly protein COX14 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10 OMIM
ClinVar		 PMID:22243966 PMID:25741868 PMID:28492532 NCBI chr 5:16,016,419...16,021,676
Ensembl chr 5:16,021,272...16,021,445 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15289
    Nutritional and Metabolic Diseases 7091
      disease of metabolism 7091
        mitochondrial metabolism disease 797
          cytochrome-c oxidase deficiency disease 218
            COX deficiency, benign infantile mitochondrial myopathy 41
              mitochondrial complex IV deficiency nuclear type 10 1
Path 2
Term Annotations click to browse term
  disease 15289
    Developmental Disease 13240
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12318
        genetic disease 11984
          inherited metabolic disorder 5479
            mitochondrial metabolism disease 797
              cytochrome-c oxidase deficiency disease 218
                COX deficiency, benign infantile mitochondrial myopathy 41
                  mitochondrial complex IV deficiency nuclear type 10 1
paths to the root