| Term Name: | tubular aggregate myopathy 2 |
|---|---|
| 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 ) |