Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alsoKnownAs |
gptkb:chronic_neuronopathic_Gaucher_disease
|
| gptkbp:characterizedBy |
gptkb:bone
hepatosplenomegaly oculomotor abnormalities neurological involvement |
| gptkbp:firstDescribed |
1950s
|
| https://www.w3.org/2000/01/rdf-schema#label |
Gaucher disease type 3
|
| gptkbp:ICD-10_code |
gptkb:E75.22
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:GBA_gene
|
| gptkbp:OMIM |
231000
|
| gptkbp:onset |
childhood
|
| gptkbp:prevalence |
rare
|
| gptkbp:subspecies |
gptkb:Gaucher_disease
|
| gptkbp:symptom |
cognitive impairment
seizures ataxia vertical supranuclear gaze palsy |
| gptkbp:treatment |
enzyme replacement therapy
substrate reduction therapy |
| gptkbp:bfsParent |
gptkb:Cerezyme
|
| gptkbp:bfsLayer |
7
|