Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Echinobase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Echinobase
Summary Literature (0)
DOID:0111393 - mucopolysaccharidosis type IIIC

Disease Ontology Definition:A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the HGSNAT gene on chromosome 8p11.2-p11.1.

Synonyms: Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency, HGSNAT deficiency, Heparan-alpha-glucosaminide N-acetyltransferase deficiency, MPS3C, MPSIIIC, Mucopolysaccharidosis type 3C, Sanfilippo syndrome type C, mucopolysaccharidosis type IIIC (Sanfilippo C),

Echinobase Genes : hgsnat


OMIM:
MIM:252930 - mucopolysaccharidosis, type iiic; mps3c

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), mucopolysaccharidosis III (is_a)