Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
Gaucher's disease subtype
|
| gptkbp:alsoKnownAs |
gptkb:chronic_neuronopathic_Gaucher's_disease
|
| gptkbp:causedBy |
mutations in GBA gene
|
| gptkbp:characterizedBy |
gptkb:bone
hepatosplenomegaly neurological symptoms |
| gptkbp:firstDescribed |
1950s
|
| gptkbp:hasBiomarker |
gptkb:glucocerebrosidase_deficiency
|
| https://www.w3.org/2000/01/rdf-schema#label |
Type 3 Gaucher's disease
|
| gptkbp:ICD-10_code |
gptkb:E75.22
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:onset |
childhood or adolescence
|
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
gptkb:Type_1_Gaucher's_disease
gptkb:Type_2_Gaucher's_disease |
| gptkbp:symptom |
gptkb:oculomotor_apraxia
cognitive impairment seizures ataxia |
| gptkbp:treatment |
enzyme replacement therapy
substrate reduction therapy |
| gptkbp:bfsParent |
gptkb:Gaucher's_disease
|
| gptkbp:bfsLayer |
5
|