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.