Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
lysosomal storage disease |
| gptkbp:accumulationOf |
gptkb:glucocerebroside
|
| gptkbp:causedBy |
mutation in GBA gene
|
| gptkbp:compatibleWith |
central nervous system
|
| gptkbp:deficiencyCauses |
gptkb:glucocerebrosidase
|
| https://www.w3.org/2000/01/rdf-schema#label |
Type 1 Gaucher's disease
|
| gptkbp:ICD-10_code |
gptkb:E75.22
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mostCommonFormOf |
gptkb:Gaucher's_disease
|
| gptkbp:namedAfter |
gptkb:Philippe_Gaucher
|
| gptkbp:OMIM |
230800
|
| gptkbp:onset |
childhood or adulthood
|
| gptkbp:prevalence |
most common in Ashkenazi Jews
|
| gptkbp:symptom |
gptkb:anemia
hepatosplenomegaly bone pain thrombocytopenia bone fractures |
| gptkbp:treatment |
enzyme replacement therapy
substrate reduction therapy |
| gptkbp:bfsParent |
gptkb:Gaucher's_disease
|
| gptkbp:bfsLayer |
5
|