| Metadata | |
|---|---|
| ID | DOID:12800 |
| Name | mucopolysaccharidosis VI |
| Definition | A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase. http://en.wikipedia.org/wiki/Maroteaux-Lamy_syndrome |
| Xrefs |
SNOMEDCT_US_2023_03_01:69463008 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
arylsulfatase B deficiency [EXACT] deficiency of N-acetylgalactosamine-4-sulfatase [EXACT] Maroteaux - Lamy syndrome [EXACT] Maroteaux-Lamy syndrome [EXACT] MPS VI - Maroteaux-Lamy syndrome [EXACT] |
| Parent Relationships |