Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease lysosomal storage disorder |
| gptkbp:alsoKnownAs |
gptkb:acute_neuronopathic_Gaucher_disease
|
| gptkbp:causedBy |
mutation in GBA gene
|
| gptkbp:characterizedBy |
failure to thrive
hepatosplenomegaly acute neuronopathic symptoms severe neurological impairment |
| gptkbp:enzymeDeficiency |
gptkb:glucocerebrosidase
|
| gptkbp:firstDescribed |
1950s
|
| gptkbp:frequency |
very rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
Type 2 Gaucher disease
|
| gptkbp:ICD-10_code |
gptkb:E75.22
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:lifeExpectancy |
usually less than 2 years
|
| gptkbp:OMIM |
230900
|
| gptkbp:onset |
infancy
|
| gptkbp:prognosis |
poor
|
| gptkbp:subclassOf |
gptkb:Gaucher_disease
|
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:Gaucher_disease
|
| gptkbp:bfsLayer |
6
|