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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
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Accession:DOID:9004212 term browser browse the term
Synonyms:exact_synonym: LIMM
 primary_id: MESH:C564017
 alt_id: OMIM:551000;   RDO:0008732;   RDO:0013119


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 mitochondrial 2-thiouridylase ISO DNA:mutations:multiple RGD PMID:23625533 RGD:21066346 NCBI chr 7:116,969,750...116,987,704
Ensembl chr 7:116,969,756...116,986,355 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8237
      disease of metabolism 8237
        mitochondrial metabolism disease 813
          Mitochondrial Cytopathy 123
            mitochondrial myopathy 123
              Mitochondrial Myopathy, Lethal Infantile 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        peripheral nervous system disease 4110
          neuropathy 3895
            neuromuscular disease 3052
              muscular disease 2142
                muscle tissue disease 1289
                  myopathy 1004
                    mitochondrial myopathy 123
                      Mitochondrial Myopathy, Lethal Infantile 1
paths to the root