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Summary Literature (0)
DOID:0080089 - tubular aggregate myopathy 1


Disease Ontology 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.

Synonyms:

In OMIM:
OMIM:160565 - MYOPATHY, TUBULAR AGGREGATE, 1; TAM1
OMIM:615883 - MYOPATHY, TUBULAR AGGREGATE, 2; TAM2

In Mondo Disease Ontology:
MONDO:0008051 - tubular aggregate myopathy

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : stim1, orai1, casq1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal dominant disease (is_a), myopathy (is_a)