non-neuronopathic Gaucher disease
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
gptkb:lysosomal_storage_disorder |
| gptkbp:alsoKnownAs |
gptkb:Gaucher_disease_type_1
|
| gptkbp:characterizedBy |
gptkb:bone
gptkb:anemia hepatosplenomegaly thrombocytopenia |
| gptkbp:doesNotInvolve |
central nervous system
|
| gptkbp:firstDescribed |
gptkb:Philippe_Gaucher
|
| gptkbp:ICD-10_code |
gptkb:E75.22
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:GBA_gene
|
| gptkbp:OMIM |
230800
|
| gptkbp:prevalence |
gptkb:Ashkenazi_Jewish_population
|
| gptkbp:symptom |
fatigue
bone pain easy bruising growth retardation |
| gptkbp:treatment |
gptkb:enzyme_replacement_therapy
substrate reduction therapy |
| gptkbp:bfsParent |
gptkb:Type_1_Gaucher_disease
|
| gptkbp:bfsLayer |
8
|
| https://www.w3.org/2000/01/rdf-schema#label |
non-neuronopathic Gaucher disease
|