Search Ontology:
Human Disease

tubular aggregate myopathy 2

Term ID
DOID:0080686
Synonyms
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. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133946/
References
Ontology
Human Disease   ( DOID:0080686 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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