Link to this page
National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
| Id | http://purl.bioontology.org/ontology/NDFRT/N0000002047
http://purl.bioontology.org/ontology/NDFRT/N0000002047
|
|---|---|
| Preferred Name | Mucopolysaccharidosis VI [Disease/Finding] |
| Synonyms |
N-Acetylgalactosamine-4-Sulfatase Deficiency
Maroteaux-Lamy Syndrome
Mucopolysaccharidosis 6
Polydystrophic Dwarfism
Mucopolysaccharidosis VI
Mucopolysaccharidosis Type 6
ARSB Deficiency
Mucopolysaccharidosis Type VI
Arylsulfatase B Deficiency
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
N-Acetylgalactosamine-4-Sulfatase Deficiency
Maroteaux-Lamy Syndrome
Mucopolysaccharidosis 6
Polydystrophic Dwarfism
Mucopolysaccharidosis VI
Mucopolysaccharidosis Type 6
ARSB Deficiency
Mucopolysaccharidosis Type VI
Arylsulfatase B Deficiency
See more
See less
|
|---|---|
| prefLabel | Mucopolysaccharidosis VI [Disease/Finding]
|
| MESH DEFINITION | Mucopolysaccharidosis with excessive CHONDROITIN SULFATE B in urine, characterized by dwarfism and deafness. It is caused by a deficiency of N-ACETYLGALACTOSAMINE-4-SULFATASE (arylsulfatase B).
|
| MESH DUI | D009087
|
| MESH UI | M0014176
|
| MeSH name | Mucopolysaccharidosis VI
|
| type | |
| tui | T047
|
| SNOMED CID |
52677002
69463008
|
| May be treated by | |
| notation | N0000002047
|
| Semantic type UMLS property | |
| NUI | N0000002047
|
| cui | C0026709
|
| NDFRT kind | DISEASE_KIND
|
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |