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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: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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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      musculoskeletal system disease 7250
        muscular disease 2000
          muscle tissue disease 1199
            myopathy 929
              congenital myopathy 232
                hyaline body myopathy 0
                  autosomal dominant hyaline body myopathy 0
                  autosomal recessive hyaline body myopathy 0
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        peripheral nervous system disease 3824
          neuropathy 3643
            neuromuscular disease 2847
              muscular disease 2000
                muscle tissue disease 1199
                  myopathy 929
                    congenital myopathy 232
                      hyaline body myopathy 0
                        autosomal dominant hyaline body myopathy 0
                        autosomal recessive hyaline body myopathy 0
paths to the root