OBO ID: DOID:0080686
Term Name: tubular aggregate myopathy 2 Search Ontology:
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 tubular aggregate myopathy 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ORAI1 Myopathy, tubular aggregate, 2 615883
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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