Visualize Submit Comment
Metadata
ID DOID:0080686
Name tubular aggregate myopathy 2
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.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133946/
Xrefs

MIM:615883

Parent Relationships

is_a myopathy

is_a autosomal dominant disease

Add an item to the term tracker