| 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 |
SNOMEDCT_US_2023_03_01:419097006 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
ANTOPOL DISEASE [EXACT] PSEUDOGLYCOGENOSIS II [EXACT] |
| Parent Relationships |