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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

ICD10CM:E76.29

MESH:D016538

MIM:253220

NCI:C84903

SNOMEDCT_US_2023_03_01:43916004

UMLS_CUI:C0085132

Subsets

NCIthesaurus

Synonyms

beta-glucuronidase deficiency [EXACT]

deficiency of beta-glucuronidase [EXACT]

MPS VII - Sly syndrome [EXACT]

mucopolysaccharidosis VII [EXACT]

Parent Relationships

is_a mucopolysaccharidosis

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