Glycogen Storage Disease Type Iib
Disease ID: disease_node_11501
Connections displayed (default: 10).
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| Dbxref | GARD:9730, MESH:D052120, MIM:300257, NCI:C84735, SNOMEDCT_US_2023_03_01:419097006, UMLS_CUI:C0878677 |
|---|---|
| Subclassof | DOID_3211, DOID_0080009 |
| Data Source | DOID, MESH |
| Synonyms | ANTOPOL DISEASE, PSEUDOGLYCOGENOSIS II |
| Mesh Id | D052120 |
| Mesh Label | Glycogen Storage Disease Type IIb |
| Mesh Subclassof | D040181, D006008, D038901, D009202 |
| Doid Label | Danon disease |
| Doid Description | A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000146 |
| Disease Node Id | disease_node_11501 |
| Doid Id | DOID_0050437 |
| Label | Glycogen Storage Disease Type Iib |
- Outgoing r'ship
SUBCLASS_OFto/from Lysosomal Storage Diseases(ID:disease_node_8717) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from X-Linked Domit Disease(ID:disease_node_13587) (Disease)