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DO Term : hyaline body myopathy [DOID:0111267] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • ORDO:53698,
  • GARD:7148,
  • myosin storage myopathy
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

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Ontology

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Ontology Term --> Direct children

Ontology Term --> Direct parents