WormBase Tree Display for DO_term: DOID:0050437
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| DOID:0050437 | Name | Danon disease | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Comment | OMIM mapping confirmed by DO. | ||||
| Synonym | Exact | ANTOPOL DISEASE | |||
| PSEUDOGLYCOGENOSIS II | |||||
| Parent | Is_a | DOID:3211 | |||
| DOID:0080009 | |||||
| DB_info | Database | OMIM | disease | 300257 | |
| Attribute_of | Gene_by_orthology | WBGene00003053 |
