Metadata | |
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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 |