Term Name: | mucopolysaccharidosis type IIIC |
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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 |
Definition: | A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the HGSNAT gene on chromosome 8p11.2-p11.1. |
Ontology: | Human Disease [DOID:0111393] ( DOID:0111393 ) |