Myopathy, tubular aggregate, 2

Definition

Any tubular aggregate myopathy in which the cause of the disease is a mutation in the ORAI1 gene.

Also known as myopathy, tubular aggregate, 2, myopathy, tubular aggregate, type 2, ORAI1 tubular aggregate myopathy, tubular aggregate myopathy caused by mutation in ORAI1 — per MONDO

Also identified as

• DOID 0080686 per MONDO
• OMIM 615883 per MONDO
• UMLS C4014557 per MONDO