Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
genetic disorder lysosomal storage disorder |
| gptkbp:accumulationOf |
gptkb:glucocerebroside
|
| gptkbp:alsoKnownAs |
gptkb:Gaucher_disease_type_2
|
| gptkbp:causedBy |
mutation in GBA gene
|
| gptkbp:enzymeDeficiency |
gptkb:glucocerebrosidase
|
| gptkbp:firstDescribed |
1882
|
| https://www.w3.org/2000/01/rdf-schema#label |
infantile Gaucher's disease
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:lifeExpectancy |
usually less than 2 years
|
| gptkbp:namedAfter |
gptkb:Philippe_Gaucher
|
| gptkbp:onset |
infancy
|
| gptkbp:prognosis |
poor
|
| gptkbp:symptom |
spasticity
seizures failure to thrive hepatosplenomegaly neurological deterioration |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:acute_neuronopathic_Gaucher's_disease
|
| gptkbp:bfsLayer |
7
|