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Summary Literature (0)
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

Xenbase Genes : lamp2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010281 - Danon disease

MIM:
MIM:300257 - DANON DISEASE

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): lysosomal storage disease (is_a), X-linked dominant disease (is_a)