mucopolysaccharidosis III (DOID:12801)
Alliance: disease page
Synonyms: heparan sulfate sulfatase deficiency; Mucopolysaccharidosis, MPS-III; N-sulphoglucosamine sulphohydrolase deficiency; naglu deficiency; Sanfilippo's syndrome
Alt IDs: OMIM:252940, DOID:14729, DOID:14788, MESH:D009084, NCI:C61262, ORDO:581, UMLS_CUI:C0026706
Definition: A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain.