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gptkbp:instanceOf
|
gptkb:genetic_disorder
|
|
gptkbp:affects
|
gptkb:nervous_system
endocrine system
musculoskeletal system
|
|
gptkbp:alsoKnownAs
|
gptkb:PWS
|
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gptkbp:category
|
gptkb:syndrome
gptkb:genetic_disorder
gptkb:neurological_disorder
gptkb:rare_disease
|
|
gptkbp:causedBy
|
loss of function of genes on chromosome 15q11-q13
|
|
gptkbp:complication
|
gptkb:cardiovascular_disease
gptkb:type_2_diabetes
scoliosis
sleep apnea
|
|
gptkbp:diagnosedBy
|
genetic testing
|
|
gptkbp:eponymOf
|
gptkb:Alex_Labhart
gptkb:Andrea_Prader
gptkb:Heinrich_Willi
|
|
gptkbp:fieldOfStudy
|
medical genetics
pediatrics
endocrinology
|
|
gptkbp:firstDescribed
|
gptkb:Andrea_Prader
gptkb:Heinrich_Willi
1956
|
|
gptkbp:hasGeneticCause
|
imprinting defect on chromosome 15
maternal uniparental disomy of chromosome 15
paternal deletion of 15q11-q13
|
|
gptkbp:ICD-10_code
|
Q87.1
|
|
gptkbp:inheritance
|
sporadic
not typically inherited
|
|
gptkbp:MeSH_ID
|
D011218
|
|
gptkbp:OMIM
|
176270
|
|
gptkbp:parentOrganization
|
gptkb:Prader-Willi_Syndrome_Association
|
|
gptkbp:prevalence
|
1 in 10,000 to 1 in 30,000 live births
|
|
gptkbp:symptom
|
gptkb:intellectual_disability
obesity
hypotonia
short stature
hypogonadism
behavioral problems
hyperphagia
|
|
gptkbp:treatment
|
behavioral therapy
dietary management
hormone replacement therapy
growth hormone therapy
|
|
gptkbp:bfsParent
|
gptkb:chromosome_15
gptkb:IPW
|
|
gptkbp:bfsLayer
|
6
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Prader-Willi syndrome
|