FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term mucopolysaccharidosis III ID (Ontology) DOID:12801 (Human Disease)
Definition A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain.
Also Known As "heparan sulfate sulfatase deficiency" ; "Mucopolysaccharidosis, MPS-III" ; "N-sulphoglucosamine sulphohydrolase deficiency" (for all, see Synonyms field below)
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DO.org
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 Genes
 mucopolysaccharidosis III       2
 for disease ribbon | mucopolysaccharidosis III       2
 model of | mucopolysaccharidosis III       2
Spanning Tree (Parents/Children)
Only view relationship: 
  lysosomal storage disease
   |__mucopolysaccharidosis
       |__mucopolysaccharidosis III  30 rec.
           |__mucopolysaccharidosis type IIIA 18 rec.
           |__mucopolysaccharidosis type IIIB 5 rec.
           |__mucopolysaccharidosis type IIIC 5 rec.
           |__mucopolysaccharidosis type IIID 2 rec.
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Is a mucopolysaccharidosis
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Synonyms
  • "heparan sulfate sulfatase deficiency" EXACT
    "Mucopolysaccharidosis, MPS-III" EXACT
    "N-sulphoglucosamine sulphohydrolase deficiency" EXACT
    "naglu deficiency" NARROW
    "Sanfilippo's syndrome" EXACT
Secondary IDs
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MESH:D009084
MIM:252940
NCI:C61262
ORDO:581
SNOMEDCT_US_2023_03_01:190936000
UMLS_CUI:C0026706