Beta-Mannosidosis
Disease ID: disease_node_11225
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| Dbxref | MESH:D044905, MIM:248510, NCI:C84596, SNOMEDCT_US_2023_03_01:238047006, UMLS_CUI:C4048196 |
|---|---|
| Subclassof | DOID_3211 |
| Data Source | DOID, MESH |
| Synonyms | Beta-D-mannosidosis, beta-mannosidase deficiency, lysosomal beta-mannosidase deficiency |
| Mesh Id | D044905 |
| Mesh Label | beta-Mannosidosis |
| Mesh Subclassof | D044904 |
| Doid Label | beta-mannosidosis |
| Doid Description | A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism. OMIM mapping confirmed by DO. [SN]. |
| Disease Node Id | disease_node_11225 |
| Doid Id | DOID_3633 |
| Label | Beta-Mannosidosis |
- Outgoing r'ship
SUBCLASS_OFto/from Lysosomal Storage Diseases(ID:disease_node_8717) (Disease)