mucopolysaccharidosis type IIIC

Summary

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

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: hgsnat

MIM:

MIM:252930 - mucopolysaccharidosis, type iiic; mps3c

MIM:252930 - mucopolysaccharidosis, type iiic; mps3c

Other Model Organisms: Alliance, 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)