tubular aggregate myopathy 2

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Summary

Literature (0)

DOID:0080686 - tubular aggregate myopathy 2

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 ORAI1 gene on chromosome 12q24.

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

: orai1

MIM:

MIM:615883 - MYOPATHY, TUBULAR AGGREGATE, 2; TAM2

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)