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gptkbp:instanceOf
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genetic disorder
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gptkbp:affects
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humans
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gptkbp:alsoKnownAs
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gptkb:trisomy_21
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gptkbp:awarenessDay
|
gptkb:March_21_(World_Down_Syndrome_Day)
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gptkbp:causedBy
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extra copy of chromosome 21
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gptkbp:diagnosedBy
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karyotype analysis
prenatal screening
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gptkbp:firstDescribed
|
gptkb:John_Langdon_Down
1866
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gptkbp:frequency
|
most common chromosomal abnormality in humans
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gptkbp:frequencyInMales
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equal to females
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gptkbp:geneticMechanism
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mosaicism
nondisjunction
translocation
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|
https://www.w3.org/2000/01/rdf-schema#label
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Down syndrome
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gptkbp:ICD-10_code
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gptkb:Q90
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gptkbp:inheritance
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usually not inherited
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gptkbp:lifeExpectancy
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about 60 years (varies)
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gptkbp:MeSH_ID
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gptkb:D004314
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gptkbp:notablePerson
|
gptkb:Chris_Nikic
gptkb:Madeline_Stuart
gptkb:Pablo_Pineda
|
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gptkbp:OMIM
|
190685
|
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gptkbp:organization
|
gptkb:Down_Syndrome_International
gptkb:National_Down_Syndrome_Society
gptkb:Global_Down_Syndrome_Foundation
|
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gptkbp:prevalence
|
about 1 in 700 births
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gptkbp:riskFactor
|
advanced maternal age
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gptkbp:symptom
|
congenital heart defects
distinct facial features
hypotonia
increased risk of Alzheimer disease
increased risk of leukemia
intellectual disability
short stature
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gptkbp:treatment
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supportive care
physical therapy
speech therapy
educational support
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gptkbp:bfsParent
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gptkb:Alzheimer's_disease
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gptkbp:bfsLayer
|
4
|