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 19
go back to main search page
Accession:DOID:0111476 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the LYRM4 gene on chromosome 6p25.1. (DO)
Synonyms:exact_synonym: COXPD19;   LYRM4-RELATED CONDITION;   severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
 primary_id: MIM:615595
 xref: ORDO:397593


show annotations for term's descendants           Sort by:
combined oxidative phosphorylation deficiency 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 19 | ClinVar Annotator: match by term: LYRM4-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:5,096,453...5,608,362
Ensembl chr 6:5,387,291...5,792,749 		JBrowse link
G LYRM4 LYR motif containing 4 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 19 | ClinVar Annotator: match by term: LYRM4-related condition OMIM
ClinVar		 PMID:23814038 PMID:25741868 PMID:28492532 NCBI chr 6:4,887,010...5,096,384
Ensembl chr 6:5,127,918...5,279,038 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15833
    Nutritional and Metabolic Diseases 7497
      disease of metabolism 7497
        mitochondrial metabolism disease 817
          combined oxidative phosphorylation deficiency 70
            combined oxidative phosphorylation deficiency 19 2
Path 2
Term Annotations click to browse term
  disease 15833
    Developmental Disease 13856
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12944
        genetic disease 12642
          monogenic disease 10826
            autosomal genetic disease 10363
              autosomal recessive disease 6949
                combined oxidative phosphorylation deficiency 19 2
paths to the root