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loading...| Preferred Name |
Sly Syndrome |
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| Synonyms |
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| Definitions |
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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| ID |
http://purl.obolibrary.org/obo/NCIT_C84903 |
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| code |
C84903 |
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| Contributing_Source |
Cellosaurus CTRP |
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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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| Display_Name |
Sly Syndrome |
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C116977 |
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| label |
Sly Syndrome |
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| Preferred_Name |
Sly Syndrome |
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| prefixIRI |
NCIT:C84903 |
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| prefLabel |
Sly Syndrome |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0085132 |
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| subClassOf |
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