Statements (61)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:healthcare_organization
|
| gptkbp:affects |
liver
bone marrow spleen |
| gptkbp:associated_with |
increased risk of certain cancers
|
| gptkbp:can_lead_to |
osteoporosis
pulmonary complications hepatomegaly splenomegaly |
| gptkbp:caused_by |
neurological symptoms
growth retardation glucocerebrosidase deficiency gastrointestinal symptoms delayed puberty |
| gptkbp:descendant |
autosomal recessive
|
| gptkbp:first_described_by |
gptkb:Philippe_Gaucher
|
| gptkbp:focuses_on |
patient advocacy groups
|
| https://www.w3.org/2000/01/rdf-schema#label |
Type 1 Gaucher disease
|
| gptkbp:includes |
genetic counseling programs
|
| gptkbp:is_affected_by |
gptkb:healthcare_organization
gptkb:hospital stress pregnancy |
| gptkbp:is_associated_with |
quality of life issues
reduced life expectancy |
| gptkbp:is_characterized_by |
accumulation of glucocerebrosides
|
| gptkbp:is_compared_to |
Type 2 Gaucher disease
Type 3 Gaucher disease |
| gptkbp:is_linked_to |
mutations in GBA gene
|
| gptkbp:is_monitored_by |
gptkb:hospital
|
| gptkbp:is_often_depicted_as |
females
|
| gptkbp:is_often_used_in |
certain ethnic groups
|
| gptkbp:is_part_of |
lysosomal storage disorders
|
| gptkbp:is_popular_in |
gptkb:Ashkenazi_Jewish_population
|
| gptkbp:is_recognized_by |
medical community
|
| gptkbp:is_studied_in |
clinical trials
|
| gptkbp:issues |
healthcare providers
|
| gptkbp:managed_by |
physical therapy
regular monitoring supportive care pain management |
| gptkbp:reports_to |
gptkb:academic_journal
|
| gptkbp:research |
ongoing for new treatments
ongoing for gene therapy ongoing for biomarkers ongoing for disease mechanisms |
| gptkbp:scientific_classification |
non-neuronopathic form
|
| gptkbp:social_responsibility |
genetic testing
blood test childhood or adulthood |
| gptkbp:subject |
public health initiatives
|
| gptkbp:symptoms |
gptkb:fandom
fatigue bruising bone pain |
| gptkbp:treatment |
gptkb:physicist
substrate reduction therapy oral medications intravenous infusions |
| gptkbp:bfsParent |
gptkb:Cerezyme
|
| gptkbp:bfsLayer |
5
|