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Metadata
ID DOID:0111393
Name mucopolysaccharidosis type IIIC
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
Xrefs

GARD:7073

ICD10CM:E76.22

MESH:D009084

MIM:252930

NCI:C84899

ORDO:79271

SNOMEDCT_US_2023_03_01:75238000

UMLS_CUI:C0086649

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency [EXACT]

Heparan-alpha-glucosaminide N-acetyltransferase deficiency [EXACT]

HGSNAT deficiency [EXACT]

MPS3C [EXACT]

MPSIIIC [EXACT]

Mucopolysaccharidosis type 3C [EXACT]

mucopolysaccharidosis type IIIC (Sanfilippo C) [EXACT]

Sanfilippo syndrome type C [EXACT]

Parent Relationships

is_a mucopolysaccharidosis III

is_a autosomal recessive disease

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