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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, naglu deficiency, MPS IIIA - Sanfilippo syndrome A, MPS IIIC - Sanfilippo syndrome C, MPS IIID - Sanfilippo syndrome D, mucopolysaccharidosis type IIIA, mucopolysaccharidosis type IIIB, Mucopolysaccharidosis, MPS-III-B, N-acetyl-alpha-D-glucosaminidase deficiency, Sanfilippo syndrome A, Sanfilippo syndrome B, MPS IIIB - Sanfilippo syndrome B, N-sulphoglucosamine sulphohydrolase deficiency, Mucopolysaccharidosis, MPS-III, Sanfilippo's syndrome
Xenbase Genes
:
gns,
hgsnat,
sgsh,
naglu
| MONDO:0018937 - mucopolysaccharidosis type 3 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s):
mucopolysaccharidosis (is_a)