FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term mucopolysaccharidosis type VII ID (Ontology) DOID:12803 (Human Disease)
Definition A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans.
Also Known As "beta-glucuronidase deficiency" ; "deficiency of beta-glucuronidase" ; "MPS VII - Sly syndrome" (for all, see Synonyms field below)
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DO.org
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       1
Human Disease Models (FBhh)  DOID       1
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 Alleles Genes Human Disease Models
 mucopolysaccharidosis type VII       1      2      1
 for disease ribbon | mucopolysaccharidosis type VII       --       2       --
 model of | mucopolysaccharidosis type VII       1      2       --
Spanning Tree (Parents/Children)
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  lysosomal storage disease
   |__mucopolysaccharidosis
       |__mucopolysaccharidosis type VII  4 rec.
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Synonyms
  • "beta-glucuronidase deficiency" EXACT
    "deficiency of beta-glucuronidase" EXACT
    "MPS VII - Sly syndrome" EXACT
    "mucopolysaccharidosis VII" EXACT
    "Sly syndrome" EXACT
Secondary IDs
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ICD10CM:E76.29
MESH:D016538
MIM:253220
NCI:C84903
SNOMEDCT_US_2023_03_01:43916004
UMLS_CUI:C0085132