Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
lysosomal storage disorder mucopolysaccharidosis |
| gptkbp:affects |
gptkb:skeletal_muscle
|
| gptkbp:alsoKnownAs |
Mucopolysaccharidosis type IX
hyaluronidase deficiency |
| gptkbp:diagnosedBy |
genetic testing
enzyme assay |
| gptkbp:enzymeDeficiency |
gptkb:hyaluronidase
|
| gptkbp:firstDescribed |
1996
|
| https://www.w3.org/2000/01/rdf-schema#label |
MPS IX
|
| gptkbp:ICD-10_code |
E76.2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
HYAL1 gene
|
| gptkbp:numberOfReportedCases |
less than 10
|
| gptkbp:OMIM |
601492
|
| gptkbp:prevalence |
extremely rare
|
| gptkbp:symptom |
joint swelling
painful joints recurrent joint effusions |
| gptkbp:treatment |
symptomatic management
|
| gptkbp:bfsParent |
gptkb:Mucopolysaccharidosis
|
| gptkbp:bfsLayer |
5
|