| Metadata | |
|---|---|
| ID | DOID:12803 |
| Name | Sly syndrome |
| Definition | A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans. http://en.wikipedia.org/wiki/Mucopolysaccharidosis_VII, http://omim.org/entry/253220 |
| Xrefs |
SNOMEDCT_US_2023_03_01:43916004 |
| Subsets |
NCIthesaurus |
| Synonyms |
beta-glucuronidase deficiency [EXACT] deficiency of beta-glucuronidase [EXACT] MPS VII - Sly syndrome [EXACT] mucopolysaccharidosis VII [EXACT] |
| Parent Relationships |