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Term:autosomal recessive hyaline body myopathy
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Accession:DOID:0111268 term browser browse the term
Definition:A hyaline body myopathy that has_material_basis_in compound heterozygous or homozygous mutation in MYH7 on 14q11.2. (DO)
Synonyms:exact_synonym: MSMB;   autosomal recessive myosin storage myopathy
 primary_id: MESH:C564970
 alt_id: OMIM:255160;   RDO:0013748
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autosomal recessive hyaline body myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          monogenic disease 4562
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                autosomal recessive hyaline body myopathy 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        peripheral nervous system disease 2127
          neuropathy 1950
            neuromuscular disease 1522
              muscular disease 959
                muscle tissue disease 685
                  myopathy 552
                    congenital myopathy 27
                      hyaline body myopathy 2
                        autosomal recessive hyaline body myopathy 1
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