Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:Gaucher_disease_subtype
|
| gptkbp:alsoKnownAs |
gptkb:chronic_neuronopathic_Gaucher_disease
|
| gptkbp:characterizedBy |
gptkb:bone
hepatosplenomegaly neurological symptoms |
| gptkbp:firstDescribed |
1950s
|
| gptkbp:ICD-10_code |
gptkb:E75.22
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:GBA_gene
|
| gptkbp:OMIM |
231000
|
| gptkbp:onset |
childhood
|
| gptkbp:parent |
gptkb:Gaucher_disease
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
gptkb:oculomotor_apraxia
cognitive impairment seizures ataxia |
| gptkbp:treatment |
gptkb:enzyme_replacement_therapy
substrate reduction therapy |
| gptkbp:bfsParent |
gptkb:Gaucher_disease
|
| gptkbp:bfsLayer |
7
|
| http://www.w3.org/2000/01/rdf-schema#label |
Type 3 Gaucher disease
|