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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-6220
http://purl.bioontology.org/ontology/CSP/1849-6220
|
|---|---|
| Preferred Name | mucopolysaccharidosis type II |
| Definitions |
lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase; this disease differs from muchopolysaccharidosis I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance.
|
| Synonyms |
Hunter's syndrome
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase; this disease differs from muchopolysaccharidosis I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance. |
|---|---|
| altLabel | Hunter's syndrome
|
| prefLabel | mucopolysaccharidosis type II
|
| Inverse of RO | |
| type | |
| tui | T047
|
| notation | 1849-6220
|
| Semantic type UMLS property | |
| DID | 1849-6220
|
| cui | C0026705
|
| Inverse of RB | |
| subClassOf |
| Delete | Subject | Author | Type | Created |
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| No notes to display |