Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
lysosomal storage disorder mucopolysaccharidosis |
| gptkbp:alsoKnownAs |
gptkb:MPS_VII
Mucopolysaccharidosis type VII |
| gptkbp:deficiencyCauses |
beta-glucuronidase
|
| gptkbp:diagnosedBy |
genetic testing
enzyme assay |
| gptkbp:firstDescribed |
1973
|
| gptkbp:hasOrphanetID |
ORPHA:649
|
| https://www.w3.org/2000/01/rdf-schema#label |
Sly syndrome
|
| gptkbp:ICD-10_code |
E76.2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
GUSB gene
|
| gptkbp:namedAfter |
William S. Sly
|
| gptkbp:OMIM |
253220
|
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
hepatosplenomegaly
developmental delay coarse facial features skeletal abnormalities hydrops fetalis |
| gptkbp:treatment |
supportive care
enzyme replacement therapy |
| gptkbp:bfsParent |
gptkb:MPS_VII
|
| gptkbp:bfsLayer |
6
|