Search Ontology:
Human Disease

Danon disease

Term ID
DOID:0050437
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. https://rarediseases.org/rare-diseases/danon-disease/
References
Ontology
Human Disease   ( DOID:0050437 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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