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gptkbp:instanceOf
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gptkb:genetic_disorder
|
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gptkbp:alsoKnownAs
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gptkb:Down_syndrome
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gptkbp:associatedWith
|
increased risk of leukemia
increased risk of Alzheimer’s disease
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gptkbp:cause
|
presence of an extra copy of chromosome 21
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gptkbp:chromosomeAffected
|
chromosome 21
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gptkbp:diagnosedBy
|
karyotype analysis
prenatal screening
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gptkbp:firstDescribed
|
gptkb:John_Langdon_Down
1866
|
|
gptkbp:frequency
|
most common chromosomal abnormality in humans
|
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gptkbp:geneticMechanism
|
gptkb:Robertsonian_translocation
mosaicism
nondisjunction
|
|
gptkbp:hasHumanPhenotypeOntologyID
|
HP:0000439
|
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gptkbp:ICD-10_code
|
gptkb:Q90
|
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gptkbp:inheritance
|
usually not inherited
|
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gptkbp:lifeExpectancy
|
about 60 years (varies)
|
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gptkbp:MeSH_ID
|
gptkb:D004314
|
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gptkbp:OMIM
|
190685
|
|
gptkbp:prevalence
|
about 1 in 700 live births
|
|
gptkbp:riskFactor
|
advanced maternal age
|
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gptkbp:symptom
|
gptkb:intellectual_disability
congenital heart defects
distinct facial features
hypotonia
|
|
gptkbp:treatment
|
special education
supportive care
early intervention programs
|
|
gptkbp:bfsParent
|
gptkb:Verifi_Prenatal_Test
|
|
gptkbp:bfsLayer
|
7
|
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https://www.w3.org/2000/01/rdf-schema#label
|
Trisomy 21
|