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DO Term : tubular aggregate myopathy 2 [DOID:0080686] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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:
615883,
OMIM:615883

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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