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

• GARD:9730
• MESH:D052120
• MIM:300257
• NCI:C84735
• SNOMEDCT_US_2023_03_01:419097006
• UMLS_CUI:C0878677

Ontology

Human Disease   ( DOID:0050437 )