Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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 Myopathy, Lethal Infantile
go back to main search page
Accession:DOID:9004212 term browser browse the term
Synonyms:exact_synonym: LIMM
 primary_id: MESH:C564017
 alt_id: OMIM:551000;   RDO:0008732;   RDO:0013119
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Mitochondrial Myopathy, Lethal Infantile term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trmu tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase ISO DNA:mutations:multiple RGD PMID:23625533 RGD:21066346 NCBI chr 7:126,756,140...126,772,749
Ensembl chr 7:126,756,151...126,772,749
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Nutritional and Metabolic Diseases 4704
      disease of metabolism 4704
        mitochondrial metabolism disease 349
          Mitochondrial Cytopathy 89
            mitochondrial myopathy 89
              Mitochondrial Myopathy, Lethal Infantile 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        peripheral nervous system disease 2425
          neuropathy 2243
            neuromuscular disease 1763
              muscular disease 1168
                muscle tissue disease 792
                  myopathy 644
                    mitochondrial myopathy 89
                      Mitochondrial Myopathy, Lethal Infantile 1
paths to the root