Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
lysosomal storage disorder |
| gptkbp:accumulatesSubstrate |
dermatan sulfate
|
| gptkbp:deficientEnzyme |
gptkb:arylsulfatase_B
|
| gptkbp:diagnosedBy |
genetic testing
enzyme assay |
| gptkbp:firstDescribed |
gptkb:Maurice_Lamy
gptkb:Pierre_Maroteaux 1963 |
| gptkbp:fullName |
gptkb:Mucopolysaccharidosis_type_VI
|
| gptkbp:hasOrphanetID |
ORPHA:358
|
| https://www.w3.org/2000/01/rdf-schema#label |
MPS6
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:ARSB_gene
|
| gptkbp:OMIM |
253200
|
| gptkbp:onset |
childhood
|
| gptkbp:symptom |
short stature
hearing loss hepatosplenomegaly joint stiffness cardiac disease coarse facial features corneal clouding skeletal abnormalities |
| gptkbp:synonym |
gptkb:Maroteaux-Lamy_syndrome
|
| gptkbp:treatment |
enzyme replacement therapy
hematopoietic stem cell transplantation |
| gptkbp:bfsParent |
gptkb:ATF80C_series
|
| gptkbp:bfsLayer |
6
|