Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease lysosomal storage disease |
| gptkbp:accumulationOf |
glycosaminoglycans
|
| gptkbp:affects |
adults
children |
| gptkbp:alsoKnownAs |
gptkb:Sly_syndrome
|
| 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 |
mucopolysaccharidosis VII
|
| gptkbp:ICD-10_code |
E76.2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
GUSB gene
|
| gptkbp:OMIM |
253220
|
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
hepatosplenomegaly
developmental delay coarse facial features corneal clouding skeletal abnormalities cardiac abnormalities hydrops fetalis |
| gptkbp:treatment |
supportive care
enzyme replacement therapy |
| gptkbp:bfsParent |
gptkb:Mepsevii
|
| gptkbp:bfsLayer |
8
|