|
gptkbp:instanceOf
|
gptkb:genetic_disorder
|
|
gptkbp:affects
|
both males and females
|
|
gptkbp:alsoKnownAs
|
trisomy 18
|
|
gptkbp:causedBy
|
extra chromosome 18
|
|
gptkbp:chromosomeAffected
|
gptkb:chromosome_18
|
|
gptkbp:commonIn
|
females
|
|
gptkbp:diagnosedBy
|
prenatal screening
karyotyping
|
|
gptkbp:firstDescribed
|
gptkb:John_H._Edwards
1960
|
|
gptkbp:hasPartialForm
|
mosaic trisomy 18
partial trisomy 18
|
|
gptkbp:ICD-10_code
|
Q91.0-Q91.3
|
|
gptkbp:inheritance
|
not inherited
|
|
gptkbp:medianSurvival
|
few weeks to months
|
|
gptkbp:MeSH_ID
|
D004537
|
|
gptkbp:OMIM
|
192500
|
|
gptkbp:percentageSurviving1Year
|
less than 10%
|
|
gptkbp:prevalence
|
1 in 5,000 live births
|
|
gptkbp:prognosis
|
poor
|
|
gptkbp:riskFactor
|
advanced maternal age
|
|
gptkbp:symptom
|
gptkb:intellectual_disability
congenital heart defects
low birth weight
small head
micrognathia
kidney malformations
clenched fists with overlapping fingers
rocker-bottom feet
|
|
gptkbp:treatment
|
supportive care
|
|
gptkbp:bfsParent
|
gptkb:chromosome_18
gptkb:John_H._Edwards
|
|
gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Edwards syndrome
|