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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:Miyoshi muscular dystrophy 2
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Accession:DOID:0070200 term browser browse the term
Definition:A Miyoshi muscular dystrophy characterized by asymmetric presentation of muscle weakness and atrophy that has_material_basis_in a locus on chromosome 10. (DO)
Synonyms:exact_synonym: MMD2;   Miyoshi Myopathy 2
 primary_id: MESH:C567646
 alt_id: OMIM:613318


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13332
      Anatomical Pathological Conditions 2655
        Atrophy 352
          muscular atrophy 86
            Miyoshi muscular dystrophy 3
              Miyoshi muscular dystrophy 2 0
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        peripheral nervous system disease 4107
          neuropathy 3892
            neuromuscular disease 3051
              muscular disease 2141
                muscle tissue disease 1288
                  atrophic muscular disease 601
                    muscular dystrophy 597
                      distal myopathy 32
                        Miyoshi muscular dystrophy 3
                          Miyoshi muscular dystrophy 2 0
paths to the root