Metadata | |
---|---|
ID | DOID:12801 |
Name | mucopolysaccharidosis III |
Definition | A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain. http://en.wikipedia.org/wiki/Sanfilippo_syndrome |
Xrefs |
SNOMEDCT_US_2023_03_01:190936000 |
Alternateids |
DOID:14729 DOID:14788 |
Subsets |
DO_rare_slim NCIthesaurus |
Synonyms |
heparan sulfate sulfatase deficiency [EXACT] Mucopolysaccharidosis, MPS-III [EXACT] N-sulphoglucosamine sulphohydrolase deficiency [EXACT] naglu deficiency [NARROW] Sanfilippo's syndrome [EXACT] |
Parent Relationships |