OBO ID: DOID:12801
Term Name: mucopolysaccharidosis III Search Ontology:
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 mucopolysaccharidosis III PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GNS Mucopolysaccharidosis type IIID 252940
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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