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:combined oxidative phosphorylation deficiency 53
go back to main search page
Accession:DOID:0070426 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency characterized by congenital-to-infantile onset, hypomyelination, microcephaly, liver dysfunction, and recurrent autoinflammation that has_material_basis_in homozygous mutation in the C2ORF69 gene on chromosome 2q33. (DO)
Synonyms:exact_synonym: COXPD53;   Elbracht-Isikay syndrome;   global developmental delay, progressive microcephaly, structural brain abnormalities, and autoinflammation
 primary_id: OMIM:619423
 alt_id: DOID:9005629


show annotations for term's descendants           Sort by:
combined oxidative phosphorylation deficiency 53 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C9h2orf69 similar to human chromosome 2 open reading frame 69 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 53 OMIM
ClinVar		 PMID:25741868 PMID:33945503 PMID:34038740 NCBI chr 9:58,949,821...58,958,456
Ensembl chr 9:58,949,846...58,958,561 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        mitochondrial metabolism disease 812
          combined oxidative phosphorylation deficiency 72
            combined oxidative phosphorylation deficiency 53 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14398
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13415
        genetic disease 13034
          monogenic disease 10418
            autosomal genetic disease 9576
              autosomal recessive disease 6655
                combined oxidative phosphorylation deficiency 53 1
paths to the root