Search Ontology:
Human Disease

mucopolysaccharidosis III

Term ID
DOID:12801
Synonyms
  • heparan sulfate sulfatase deficiency
  • Mucopolysaccharidosis, MPS-III
  • N-sulphoglucosamine sulphohydrolase deficiency
  • naglu deficiency
  • Sanfilippo's syndrome
Definition
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain. http://en.wikipedia.org/wiki/Sanfilippo_syndrome
References
Ontology
Human Disease   ( DOID:12801 )
Relationships
is a type of
has subtype
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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