| Metadata | |
|---|---|
| ID | DOID:0080089 |
| Name | tubular aggregate myopathy 1 |
| Definition | A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the STIM1 gene on chromosome 11p15. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133946/ |
| Xrefs | |
| SKOS |
narrowMatch ORDO:2593 |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a autosomal dominant disease is_a myopathy |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |