FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Danon disease ID (Ontology) DOID:0050437 (Human 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.
Also Known As "ANTOPOL DISEASE" ; "PSEUDOGLYCOGENOSIS II"
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 Genes
 Danon disease       1
 for disease ribbon | Danon disease       1
 model of | Danon disease       1
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked dominant disease__
inherited metabolic disorder   |
 |__lysosomal storage disease__|
                               Danon disease  1 rec.
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Is a X-linked dominant disease
lysosomal storage disease
Part of
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Synonyms
  • "ANTOPOL DISEASE" EXACT
    "PSEUDOGLYCOGENOSIS II" EXACT
Secondary IDs
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GARD:9730
MESH:D052120
MIM:300257
NCI:C84735
SNOMEDCT_US_2023_03_01:419097006
UMLS_CUI:C0878677