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gptkbp:instanceOf
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gptkb:genetic_disorder
|
|
gptkbp:alsoKnownAs
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gptkb:Edwards_syndrome
|
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gptkbp:causedBy
|
presence of an extra chromosome 18
|
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gptkbp:chromosomeAffected
|
gptkb:chromosome_18
|
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gptkbp:diagnosedBy
|
karyotype analysis
prenatal genetic testing
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gptkbp:firstDescribed
|
1960
John Hilton Edwards
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gptkbp:frequencyInFemales
|
higher than in males
|
|
gptkbp:hasMosaicForm
|
yes
|
|
gptkbp:hasOrphanetID
|
ORPHA:870
|
|
gptkbp:hasPartialForm
|
yes
|
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gptkbp:ICD-10_code
|
Q91.0-Q91.3
|
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gptkbp:inheritance
|
not usually inherited
|
|
gptkbp:medianSurvival
|
less than 1 year
|
|
gptkbp:mostCasesAre
|
de novo
|
|
gptkbp:OMIM
|
192500
|
|
gptkbp:prevalence
|
1 in 5,000 live births
|
|
gptkbp:prognosis
|
poor
|
|
gptkbp:relatedTo
|
gptkb:Trisomy_13
gptkb:Trisomy_21
|
|
gptkbp:riskFactor
|
advanced maternal age
|
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gptkbp:symptom
|
gptkb:intellectual_disability
congenital heart defects
microcephaly
low birth weight
kidney malformations
clenched fists with overlapping fingers
rocker-bottom feet
malformed ears
small jaw
|
|
gptkbp:treatment
|
supportive care
|
|
gptkbp:type
|
autosomal trisomy
|
|
gptkbp:bfsParent
|
gptkb:Verifi_Prenatal_Test
gptkb:Bella's_Gift
gptkb:Isabella_Santorum
|
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gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Trisomy 18
|