Term Name: | tubular aggregate myopathy 2 |
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Synonyms: | |
Definition: | A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the ORAI1 gene on chromosome 12q24. |
Ontology: | Human Disease [DOID:0080686] ( DOID:0080686 ) |