Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
lysosomal storage disease |
| gptkbp:affects |
children
|
| gptkbp:alsoKnownAs |
gptkb:Sly_syndrome
|
| gptkbp:causedBy |
mutation in GUSB gene
|
| gptkbp:deficiencyCauses |
beta-glucuronidase
|
| gptkbp:diagnosedBy |
genetic testing
enzyme assay |
| gptkbp:firstDescribed |
1973
William S. Sly |
| https://www.w3.org/2000/01/rdf-schema#label |
MPS VII
|
| gptkbp:ICD-10_code |
E76.2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
253220
|
| gptkbp:prevalence |
extremely rare
|
| gptkbp:symptom |
hepatosplenomegaly
developmental delay coarse facial features corneal clouding skeletal abnormalities cardiac involvement |
| gptkbp:treatment |
supportive care
enzyme replacement therapy |
| gptkbp:bfsParent |
gptkb:Mucopolysaccharidosis
|
| gptkbp:bfsLayer |
5
|