| Metadata | |
|---|---|
| ID | DOID:3633 |
| Name | beta-mannosidosis |
| Definition | 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. http://en.wikipedia.org/wiki/Beta-mannosidosis |
| Xrefs |
SNOMEDCT_US_2023_03_01:238047006 |
| Subsets |
NCIthesaurus |
| Synonyms |
Beta-D-mannosidosis [EXACT] beta-mannosidase deficiency [EXACT] lysosomal beta-mannosidase deficiency [EXACT] |
| Parent Relationships |