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loading...| Preferred Name |
Sly Syndrome |
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| Synonyms |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Sly_Syndrome |
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| DEFINITION |
A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta-glucuronidase. It is characterized by hepatosplenomegaly, skeletal deformities, enlarged head, and mental retardation. |
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| FULL_SYN |
Beta-Glucuronidase Deficiency Mucopolysaccharidosis Type VII |
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| label |
Sly Syndrome |
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| prefixIRI |
Thesaurus:Sly_Syndrome |
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| prefLabel |
Sly Syndrome |
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| subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Mucopolysaccharidosis |
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