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ONTOLOGY REPORT - ANNOTATIONS


Term:Miyoshi muscular dystrophy
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Accession:DOID:0070198 term browser browse the term
Definition:A distal muscular dystrophy characterized by autosomal recessive inheritance of distal muscle weakness in the upper and lower limbs that spares the intrinsic muscles of the hands and has onset in young adulthood. (DO)
Synonyms:exact_synonym: Miyoshi distal myopathy;   Miyoshi myopathy;   distal muscular dystrophy, late onset, autosomal recessive
 primary_id: MESH:C537480
 alt_id: DOID:9005765;   RDO:0003326
 xref: GARD:9676;   OMIM:PS254130;   ORDO:45448
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Miyoshi muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ano5 anoctamin 5 JBrowse link 1 106,873,580 106,971,769 RGD:8554872
G Dysf dysferlin JBrowse link 4 115,700,942 115,901,873 RGD:8554872
RGD:11554173
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
Miyoshi muscular dystrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ano5 anoctamin 5 JBrowse link 1 106,873,580 106,971,769 RGD:7240710
RGD:8554872
RGD:11570558

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Pathological Conditions, Signs and Symptoms 8030
      Anatomical Pathological Conditions 1329
        Atrophy 92
          muscular atrophy 79
            Miyoshi muscular dystrophy 2
              Miyoshi muscular dystrophy 1 1
              Miyoshi muscular dystrophy 2 0
              Miyoshi muscular dystrophy 3 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        peripheral nervous system disease 2125
          neuropathy 1948
            neuromuscular disease 1520
              muscular disease 957
                muscle tissue disease 684
                  myopathy 549
                    muscular dystrophy 277
                      distal myopathy 25
                        Miyoshi muscular dystrophy 2
                          Miyoshi muscular dystrophy 1 1
                          Miyoshi muscular dystrophy 2 0
                          Miyoshi muscular dystrophy 3 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.