About   Help   FAQ
Due to maintenance, access to MGI may be intermittent starting at 7:30AM ET on Friday, September 29.
Disease Ontology Browser
mucopolysaccharidosis type IIIC (DOID:0111393)
Alliance: disease page
Synonyms: Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency; Heparan-alpha-glucosaminide N-acetyltransferase deficiency; HGSNAT deficiency; MPS3C; MPSIIIC; Mucopolysaccharidosis type 3C; mucopolysaccharidosis type IIIC (Sanfilippo C); Sanfilippo syndrome type C
Alt IDs: OMIM:252930, ICD10CM:E76.22, MESH:D009084, NCI:C84899, ORDO:79271, UMLS_CUI:C0086649
Definition: A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the HGSNAT gene on chromosome 8p11.2-p11.1.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
MGI 6.22
The Jackson Laboratory