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gptkbp:instanceOf
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genetic disorder
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gptkbp:alsoKnownAs
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gptkb:Edwards_syndrome
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gptkbp:causedBy
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presence of an extra chromosome 18
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gptkbp:chromosomeAffected
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gptkb:chromosome_18
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gptkbp:diagnosedBy
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karyotype analysis
prenatal genetic testing
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gptkbp:firstDescribed
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1960
John Hilton Edwards
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gptkbp:frequencyInFemales
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higher than in males
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gptkbp:hasMosaicForm
|
yes
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gptkbp:hasOrphanetID
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ORPHA:870
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gptkbp:hasPartialForm
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yes
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https://www.w3.org/2000/01/rdf-schema#label
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Trisomy 18
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gptkbp:ICD-10_code
|
Q91.0-Q91.3
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gptkbp:inheritance
|
not usually inherited
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gptkbp:medianSurvival
|
less than 1 year
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gptkbp:mostCasesAre
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de novo
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gptkbp:OMIM
|
192500
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gptkbp:prevalence
|
1 in 5,000 live births
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gptkbp:prognosis
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poor
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gptkbp:relatedTo
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gptkb:Trisomy_13
gptkb:Trisomy_21
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gptkbp:riskFactor
|
advanced maternal age
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gptkbp:symptom
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congenital heart defects
intellectual disability
microcephaly
low birth weight
kidney malformations
clenched fists with overlapping fingers
rocker-bottom feet
malformed ears
small jaw
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gptkbp:treatment
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supportive care
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gptkbp:type
|
autosomal trisomy
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gptkbp:bfsParent
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gptkb:Bella's_Gift
gptkb:Isabella_Santorum
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gptkbp:bfsLayer
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6
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