Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
lysosomal storage disease |
| gptkbp:accumulates |
gptkb:glucocerebroside
|
| gptkbp:affects |
gptkb:nervous_system
liver spleen bone marrow |
| gptkbp:category |
rare disease
metabolic disorder |
| gptkbp:causedBy |
mutation in GBA gene
|
| gptkbp:enzymeDeficiency |
gptkb:glucocerebrosidase
|
| gptkbp:firstDescribed |
gptkb:Philippe_Gaucher
1882 |
| gptkbp:hasOrphanetID |
355
|
| gptkbp:hasType |
gptkb:Type_1_Gaucher_disease
gptkb:Type_2_Gaucher_disease gptkb:Type_3_Gaucher_disease |
| https://www.w3.org/2000/01/rdf-schema#label |
Gaucher disease
|
| gptkbp:ICD-10_code |
E75.2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:MeSH_ID |
D005776
|
| gptkbp:OMIM |
230800
|
| gptkbp:prevalence |
most common in Ashkenazi Jews
|
| gptkbp:symptom |
gptkb:anemia
fatigue hepatosplenomegaly bone pain easy bruising |
| gptkbp:treatment |
enzyme replacement therapy
substrate reduction therapy |
| gptkbp:bfsParent |
gptkb:Ashkenazi
|
| gptkbp:bfsLayer |
5
|