Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
lysosomal storage disorder mucopolysaccharidosis |
| gptkbp:abbreviation |
gptkb:MPS_VI
|
| gptkbp:affects |
adults
children |
| gptkbp:alsoKnownAs |
gptkb:Mucopolysaccharidosis_type_VI
|
| gptkbp:category |
genetic disorder
metabolic disorder |
| gptkbp:deficiencyCauses |
gptkb:arylsulfatase_B
|
| gptkbp:firstDescribed |
gptkb:Maurice_Lamy
gptkb:Pierre_Maroteaux 1963 |
| https://www.w3.org/2000/01/rdf-schema#label |
Maroteaux-Lamy syndrome
|
| gptkbp:ICD-10_code |
E76.2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:ARSB_gene
|
| gptkbp:OMIM |
253200
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
short stature
hepatosplenomegaly joint stiffness coarse facial features corneal clouding skeletal abnormalities cardiac abnormalities |
| gptkbp:treatment |
enzyme replacement therapy
hematopoietic stem cell transplantation |
| gptkbp:bfsParent |
gptkb:MPS_VI
|
| gptkbp:bfsLayer |
6
|