DO_rare_slim NCIthesaurus has material basis in autosomal recessive disease mucopolysaccharidosis type IIIC UMLS_CUI:C0086649 DOID:0111393 MESH:D009084 MIM:252930 ICD10CM:E76.22 A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the HGSNAT gene on chromosome 8p11.2-p11.1. Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency HGSNAT deficiency Heparan-alpha-glucosaminide N-acetyltransferase deficiency MPS3C MPSIIIC Mucopolysaccharidosis type 3C NCI:C84899 ORDO:79271 Sanfilippo syndrome type C disease_ontology SNOMEDCT_US_2025_09_01:75238000 GARD:7073 mucopolysaccharidosis type IIIC (Sanfilippo C) mucopolysaccharidosis III autosomal recessive inheritance