Sly syndrome

Term ID

DOID:12803

Synonyms

• beta-glucuronidase deficiency
• deficiency of beta-glucuronidase
• MPS VII - Sly syndrome
• mucopolysaccharidosis VII

Definition

A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans. (2)

References

• ICD10CM:E76.29
• MESH:D016538
• MIM:253220
• NCI:C84903
• SNOMEDCT_US_2023_03_01:43916004
• UMLS_CUI:C0085132

Ontology

Human Disease   ( DOID:12803 )