| 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 |
SNOMEDCT_US_2023_03_01:75238000 |
| 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 | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |