Statements (52)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:Genetics
|
| gptkbp:advocacy |
funding for research
awareness initiatives collaboration with health organizations legislation for rare diseases |
| gptkbp:associated_with |
gptkb:Aniridia
gptkb:Wilms_tumor Intellectual disability Genitourinary abnormalities |
| gptkbp:case_analysis |
documented in medical literature
analyzed in clinical trials discussed in patient forums reported in genetic registries |
| gptkbp:caused_by |
deletion on chromosome 11p13
|
| gptkbp:condition |
gptkb:Syndrome_of_inappropriate_antidiuretic_hormone_secretion
Other chromosomal disorders PAX6 mutations |
| gptkbp:diagnosis |
genetic testing
|
| gptkbp:first_described_by |
gptkb:1980s
|
| gptkbp:future_prospects |
varies by individual
increased risk of tumors need for regular medical follow-up potential for developmental support |
| gptkbp:genetic_testing_recommendation |
family history of the syndrome
postnatal testing options prenatal testing options presence of symptoms |
| https://www.w3.org/2000/01/rdf-schema#label |
WAGR syndrome
|
| gptkbp:inherits_from |
autosomal dominant
|
| gptkbp:is_involved_in |
online communities
local meetups medical professional networks parent networks |
| gptkbp:prevalence |
1 in 500,000 births
|
| gptkbp:public_awareness |
gptkb:educational_resources
community outreach fundraising efforts support organizations |
| gptkbp:research_focus |
genetic counseling
Wilms tumor genetics aniridia mechanisms chromosome 11p13 deletions |
| gptkbp:symptoms |
developmental delays
eye abnormalities urinary tract issues kidney tumors |
| gptkbp:treatment |
educational support
psychological support surgical intervention monitoring for tumors |
| gptkbp:bfsParent |
gptkb:Wilms_tumor
|
| gptkbp:bfsLayer |
7
|