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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 HGSNAT 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)
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last database update
11/10/2020
MGI 6.16
The Jackson Laboratory