Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
lysosomal storage disease |
| gptkbp:affects |
gptkb:skeletal_muscle
|
| gptkbp:causedBy |
enzyme deficiency
|
| gptkbp:characterizedBy |
accumulation of glycosaminoglycans
|
| gptkbp:diagnosedBy |
genetic testing
enzyme assay |
| gptkbp:firstDescribed |
1917
|
| https://www.w3.org/2000/01/rdf-schema#label |
Mucopolysaccharidosis
|
| gptkbp:ICD-10_code |
E76
|
| gptkbp:inheritance |
X-linked recessive
autosomal recessive |
| gptkbp:MeSH_ID |
D009081
|
| gptkbp:namedFor |
gptkb:Charles_Hunter
|
| gptkbp:OMIM |
253200
|
| gptkbp:subspecies |
gptkb:MPS_I
gptkb:MPS_II gptkb:MPS_III gptkb:MPS_IV gptkb:MPS_IX gptkb:MPS_VI gptkb:MPS_VII |
| gptkbp:symptom |
developmental delay
joint stiffness coarse facial features skeletal abnormalities organomegaly |
| gptkbp:treatment |
enzyme replacement therapy
hematopoietic stem cell transplantation |
| gptkbp:bfsParent |
gptkb:MPS
|
| gptkbp:bfsLayer |
4
|