Term Name: | mucopolysaccharidosis III |
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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 ) |