Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
lysosomal storage disorder mucopolysaccharidosis |
| gptkbp:affects |
children
|
| gptkbp:alsoKnownAs |
gptkb:MPS_I
gptkb:Mucopolysaccharidosis_type_I |
| gptkbp:causedBy |
mutation in IDUA gene
|
| gptkbp:diagnosedBy |
genetic testing
enzyme assay |
| gptkbp:enzymeDeficiency |
gptkb:alpha-L-iduronidase
|
| https://www.w3.org/2000/01/rdf-schema#label |
Hurler syndrome
|
| gptkbp:ICD-10_code |
E76.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:namedAfter |
gptkb:Gertrud_Hurler
|
| gptkbp:OMIM |
607014
|
| gptkbp:onset |
infancy
|
| gptkbp:prevalence |
rare
|
| gptkbp:prognosis |
reduced life expectancy
|
| gptkbp:symptom |
hearing loss
hepatosplenomegaly developmental delay joint stiffness cardiac disease coarse facial features corneal clouding skeletal abnormalities |
| gptkbp:treatment |
enzyme replacement therapy
hematopoietic stem cell transplantation |
| gptkbp:bfsParent |
gptkb:mucopolysaccharidosis_type_I_(MPS_I)
|
| gptkbp:bfsLayer |
5
|