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