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ONTOLOGY REPORT - ANNOTATIONS


Term:hyaline body myopathy
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Accession:DOID:0111267 term browser browse the term
Definition:A congenital myopathy characterized by accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers and a variable development of muscle weakness that has_material_basis_in mutation in MYH7 on 14q11.2. (DO)
Synonyms:exact_synonym: myosin storage myopathy
 xref: GARD:7148;   ORDO:53698
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hyaline body myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh6 myosin heavy chain 6 JBrowse link 15 33,605,653 33,629,730 RGD:8554872
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
autosomal dominant hyaline body myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh6 myosin heavy chain 6 JBrowse link 15 33,605,653 33,629,730 RGD:8554872
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:7240710
RGD:8554872
RGD:12792959
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
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      musculoskeletal system disease 4297
        muscular disease 968
          myopathy 556
            congenital myopathy 29
              hyaline body myopathy 2
                autosomal dominant hyaline body myopathy 2
                autosomal recessive hyaline body myopathy 1
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        peripheral nervous system disease 2134
          neuropathy 1956
            neuromuscular disease 1530
              muscular disease 968
                muscle tissue disease 689
                  myopathy 556
                    congenital myopathy 29
                      hyaline body myopathy 2
                        autosomal dominant hyaline body myopathy 2
                        autosomal recessive hyaline body myopathy 1
paths to the root

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