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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
| Id | http://purl.bioontology.org/ontology/NDFRT/N0000003429
http://purl.bioontology.org/ontology/NDFRT/N0000003429
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|---|---|
| Preferred Name | Mucopolysaccharidosis II [Disease/Finding] |
| Synonyms |
Mucopolysaccharidosis II
Mucopolysaccharidosis Type 2
Hunter Syndrome
Gargoylism, Hunter Syndrome
Hunter Syndrome Gargoylism
Hunter's Syndrome
Mucopolysaccharidosis Type II
Mucopolysaccharidosis 2
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Mucopolysaccharidosis II
Mucopolysaccharidosis Type 2
Hunter Syndrome
Gargoylism, Hunter Syndrome
Hunter Syndrome Gargoylism
Hunter's Syndrome
Mucopolysaccharidosis Type II
Mucopolysaccharidosis 2
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| prefLabel | Mucopolysaccharidosis II [Disease/Finding]
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| notation | N0000003429
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| May be treated by | |
| MESH DEFINITION | Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase. This disease differs from MUCOPOLYSACCHARIDOSIS I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance. The mild form produces near-normal intelligence and life span. The severe form usually causes death by age 15.
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| MESH UI | M0025232
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| subClassOf | |
| Semantic type UMLS property | |
| MeSH name | Mucopolysaccharidosis II
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| NDFRT kind | DISEASE_KIND
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| type | |
| SNOMED CID | 70737009
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| tui | T047
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| NUI | N0000003429
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| cui | C0026705
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| MESH DUI | D016532
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| Delete | Subject | Author | Type | Created |
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| No notes to display |