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 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
Advanced Search (OLGA)

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 52
go back to main search page
Accession:DOID:0070425 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency characterized by infantile onset, lactic acidemia, hypotonia, respiratory chain complex II and III deficiency, and multisystem organ failure that has_material_basis_in homozygous mutation in the NFS1 gene on chromosome 20q11. (DO)
Synonyms:exact_synonym: COXPD52
 primary_id: MIM:619386
 alt_id: DOID:9005483

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
combined oxidative phosphorylation deficiency 52 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfs1 NFS1 cysteine desulfurase ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 52 OMIM
ClinVar		 PMID:16199547 PMID:24498631 PMID:25741868 PMID:28492532 PMID:33457206 NCBI chrNW_004624842:3,736,352...3,774,456
Ensembl chrNW_004624842:3,736,411...3,774,014 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14165
    Nutritional and Metabolic Diseases 6935
      disease of metabolism 6935
        mitochondrial metabolism disease 768
          combined oxidative phosphorylation deficiency 71
            combined oxidative phosphorylation deficiency 52 1
Path 2
Term Annotations click to browse term
  disease 14165
    Developmental Disease 12409
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11649
        genetic disease 11372
          monogenic disease 9688
            autosomal genetic disease 9031
              autosomal recessive disease 6404
                combined oxidative phosphorylation deficiency 52 1
paths to the root