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Metadata
ID DOID:0050437
Name Danon disease
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.
https://rarediseases.org/rare-diseases/danon-disease/
Xrefs

GARD:9730

MESH:D052120

NCI:C84735

OMIM:300257

SNOMEDCT_US_2019_09_01:419097006

UMLS_CUI:C0878677

Subsets

NCIthesaurus

Synonyms

ANTOPOL DISEASE [EXACT]

PSEUDOGLYCOGENOSIS II [EXACT]

Parent Relationships

is_a lysosomal storage disease

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