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polyglucosan body myopathy 1 with or without immunodeficiency
Disease Summary
Associated Targets (1)
Tbio
1
Uniprot Description A disease characterized by polyglucosan storage myopathy associated with early-onset progressive muscle weakness and progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. Some patients present with severe immunodeficiency, invasive bacterial infections and chronic autoinflammation.
Mondo Term and Equivalent IDs
MONDO:0014389: polyglucosan body myopathy 1 with or without immunodeficiency
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:615895
UMLS:C4014605
MONDO:0014389
High level summary of knowledge for a disease, including descriptions and datasource references.