OBO ID: DOID:0111393
Term Name: mucopolysaccharidosis type IIIC Search Ontology:
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. https://www.ncbi.nlm.nih.gov/pubmed/16960811
References:
  • GARD:7073
  • ICD10CM:E76.22
  • MESH:D009084
  • NCI:C84899
  • OMIM:252930
  • ORDO:79271
  • SNOMEDCT_US_2023_03_01:75238000
  • UMLS_CUI:C0086649
Ontology: Human Disease   ( DOID:0111393 )
Relationships
is a type of:
OTHER mucopolysaccharidosis type IIIC PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HGSNAT Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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