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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:myofibrillar myopathy 6
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Accession:DOID:0080097 term browser browse the term
Definition:A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26. (DO)
Synonyms:exact_synonym: BAG3-related myofibrillar myopathy;   MFM6
 primary_id: MESH:C567843
 alt_id: OMIM:612954;   RDO:0009733;   RDO:0015757
For additional species annotation, visit the Alliance of Genome Resources.



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    physical disorder 3106
      congenital structural myopathy 157
        myofibrillar myopathy 58
          myofibrillar myopathy 6 2
Path 2
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      nervous system disease 12148
        peripheral nervous system disease 2569
          neuropathy 2364
            neuromuscular disease 1882
              muscular disease 1285
                muscle tissue disease 832
                  myopathy 666
                    congenital structural myopathy 157
                      myofibrillar myopathy 58
                        myofibrillar myopathy 6 2
paths to the root