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DOID:0050437 - Danon disease
Disease Ontology 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.
Synonyms: ANTOPOL DISEASE, PSEUDOGLYCOGENOSIS II,
Echinobase Genes :
MIM:300257 - danon disease |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
lysosomal storage disease (is_a)