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Danon disease
Summary
- Synonym
-
- 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.
- Super Class
- X-linked dominant disease lysosomal storage disease
External Links
- Disease Ontology
- DOID:0050437
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P07741 | Adenine phosphoribosyltransferase |
