| Metadata | |
|---|---|
| ID | DOID:3413 |
| Name | alpha-mannosidosis |
| Definition | A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome. http://en.wikipedia.org/wiki/Alpha-mannosidosis |
| Xrefs |
SNOMEDCT_US_2023_03_01:65524005 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Alpha-D-mannosidosis [EXACT] alpha-mannosidase deficiency [EXACT] deficiency of alpha-mannosidase [EXACT] |
| Parent Relationships |