|
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 |
| MIM:160565 - MYOPATHY, TUBULAR AGGREGATE, 1; TAM1 |
| MIM:615883 - MYOPATHY, TUBULAR AGGREGATE, 2; TAM2 |
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)