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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-6512
http://purl.bioontology.org/ontology/CSP/1849-6512
|
|---|---|
| Preferred Name | mucopolysaccharidosis type VI |
| Definitions |
mucopolysaccharidosis with excessive chondroitin sulfate B in urine, characterized by dwarfism and deafness; caused by a deficiency of arylsulfatase B (N-acetylgalactosamine-4-sulfatase).
|
| Synonyms |
arylsulfatase B deficiency
Maroteaux Lamy syndrome
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | mucopolysaccharidosis with excessive chondroitin sulfate B in urine, characterized by dwarfism and deafness; caused by a deficiency of arylsulfatase B (N-acetylgalactosamine-4-sulfatase). |
|---|---|
| altLabel |
arylsulfatase B deficiency
Maroteaux Lamy syndrome
|
| prefLabel | mucopolysaccharidosis type VI
|
| type | |
| tui | T047
|
| notation | 1849-6512
|
| Semantic type UMLS property | |
| DID | 1849-6512
|
| cui | C0026709
|
| Inverse of RB | |
| subClassOf |
| Delete | Subject | Author | Type | Created |
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| No notes to display |