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ONTOLOGY REPORT - ANNOTATIONS


Term:Miyoshi muscular dystrophy 1
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Accession:DOID:0070199 term browser browse the term
Definition:A Miyoshi muscular dystrophy that has_material_basis_in mutation in the DYSF gene on chromosome 2p13. (DO)
Synonyms:exact_synonym: Miyoshi myopathy 1
 primary_id: OMIM:254130
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Miyoshi muscular dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dysf dysferlin JBrowse link 4 115,700,942 115,901,873 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        genetic disease 6457
          Miyoshi muscular dystrophy 1 1
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      nervous system disease 9141
        peripheral nervous system disease 2004
          neuropathy 1820
            neuromuscular disease 1392
              muscular disease 887
                muscle tissue disease 613
                  myopathy 494
                    muscular dystrophy 223
                      distal myopathy 26
                        Miyoshi muscular dystrophy 3
                          Miyoshi muscular dystrophy 1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.