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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
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| Id | http://purl.bioontology.org/ontology/NDFRT/N0000003433
http://purl.bioontology.org/ontology/NDFRT/N0000003433
|
|---|---|
| Preferred Name | Mucopolysaccharidosis VII [Disease/Finding] |
| Synonyms |
Sly Disease
GUSB Deficiency
beta-Glucuronidase Deficiency
Mucopolysaccharidosis 7
Mucopolysaccharidosis VII
Mucopolysaccharidosis Type VII
Sly Syndrome
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Sly Disease
GUSB Deficiency
beta-Glucuronidase Deficiency
Mucopolysaccharidosis 7
Mucopolysaccharidosis VII
Mucopolysaccharidosis Type VII
Sly Syndrome
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|
|---|---|
| prefLabel | Mucopolysaccharidosis VII [Disease/Finding]
|
| notation | N0000003433
|
| MESH DEFINITION | Mucopolysaccharidosis characterized by excessive dermatan and heparan sulfates in the urine and Hurler-like features. It is caused by a deficiency of beta-glucuronidase.
|
| MESH UI | M0025240
|
| subClassOf | |
| Semantic type UMLS property | |
| MeSH name | Mucopolysaccharidosis VII
|
| NDFRT kind | DISEASE_KIND
|
| type | |
| SNOMED CID |
124470009
43916004
|
| tui | T047
|
| NUI | N0000003433
|
| cui | C0085132
|
| MESH DUI | D016538
|
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