tubular aggregate myopathy 1

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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:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: stim1, orai1, casq1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008051 - tubular aggregate myopathy

MONDO:0008051 - tubular aggregate myopathy

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), myopathy (is_a)