Term Name: mucopolysaccharidosis III
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.
Ontology: Human Disease [DOID:12801]   ( DOID:12801 )

Relationships
is a type of: mucopolysaccharidosis
has subtype: mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIB mucopolysaccharidosis type IIIC mucopolysaccharidosis type IIID