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DO Term : tubular aggregate myopathy 1 [DOID:0080089] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the STIM1 gene on chromosome 11p15.
  • synonyms:
  • GARD:3884,
  • 160565,
  • OMIM:160565
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