Statements (50)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:associatedWith |
mental health issues
cardiovascular issues sleep apnea diabetes mellitus osteoporosis short stature learning difficulties hypogonadism gastrointestinal problems skin picking |
| gptkbp:causedBy |
deletion of paternal chromosome 15
|
| gptkbp:demographics |
1 in 15,000 to 1 in 30,000 births
|
| gptkbp:diseaseResistance |
genetic testing
clinical evaluation |
| gptkbp:firstDescribedBy |
1956
|
| gptkbp:geneticDiversity |
autosomal dominant
autosomal recessive imprinting disorder |
| https://www.w3.org/2000/01/rdf-schema#label |
Prader-Willi Syndrome
|
| gptkbp:impact |
health complications
social challenges behavioral therapy employment challenges family dynamics dietary management hormone therapy |
| gptkbp:lifespan |
reduced life expectancy
|
| gptkbp:manager |
nutritional counseling
regular health check-ups multidisciplinary approach community support programs physical activity encouragement |
| gptkbp:namedAfter |
Alois_Prader
Henrietta_Willi |
| gptkbp:providesServices |
gptkb:Prader-Willi_Syndrome_Association
International Prader-Willi Syndrome Organisation Foundation_for_Prader-Willi_Research PWSA_USA |
| gptkbp:researchFocus |
psychological support
genetic mechanisms treatment options |
| gptkbp:riskManagement |
family history
assisted reproductive technology advanced paternal age |
| gptkbp:symptoms |
obesity
intellectual disability behavioral problems hypotonia hyperphagia |