Summary Literature (0)

DOID:12801 - mucopolysaccharidosis III

Disease Ontology Definition:A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain.

Synonyms: heparan sulfate sulfatase deficiency, MPS IIIA - Sanfilippo syndrome A, MPS IIIB - Sanfilippo syndrome B, MPS IIIC - Sanfilippo syndrome C, MPS IIID - Sanfilippo syndrome D, Mucopolysaccharidosis, MPS-III, Mucopolysaccharidosis, MPS-III-B, mucopolysaccharidosis type IIIA, mucopolysaccharidosis type IIIB, N-acetyl-alpha-D-glucosaminidase deficiency, naglu deficiency, N-sulphoglucosamine sulphohydrolase deficiency, Sanfilippo's syndrome, Sanfilippo syndrome A, Sanfilippo syndrome B

Xenbase Genes : gns, hgsnat, sgsh, naglu

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0018937 - mucopolysaccharidosis type 3

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee