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Disease Ontology Browser
tubular aggregate myopathy 2 (DOID:0080686)
Alliance: disease page
Alt IDs: OMIM:615883
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
01/12/2022
MGI 6.17
The Jackson Laboratory