Term Name: | Danon disease |
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Synonyms: | ANTOPOL DISEASE, PSEUDOGLYCOGENOSIS II |
Definition: | A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene. |
Ontology: | Human Disease [DOID:0050437] ( DOID:0050437 ) |