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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 : stim1, orai1, casq1
MONDO:0008051 - tubular aggregate myopathy |
Other Model Organisms: Alliance, 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)