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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:associatedWith
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increased risk of Alzheimer disease
increased risk of leukemia
vision problems
hearing loss
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gptkbp:awarenessDay
|
March 21
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gptkbp:causedBy
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presence of all or part of a third copy of chromosome 21
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gptkbp:characteristic
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epicanthic folds
flat facial profile
single transverse palmar crease
upslanting palpebral fissures
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gptkbp:chromosomeAffected
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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:frequencyInUS
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about 6,000 babies born each year
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gptkbp:geneticMechanism
|
nondisjunction
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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:lifespan
|
average life expectancy over 60 years
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gptkbp:MeSH_ID
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gptkb:D004314
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gptkbp:notablePerson
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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
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about 1 in 700 live births
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gptkbp:riskFactor
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advanced maternal age
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gptkbp:subspecies
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gptkb:mosaic_Down_syndrome
gptkb:standard_trisomy_21
gptkb:translocation_Down_syndrome
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gptkbp:symbol
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blue and yellow ribbon
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gptkbp:symptom
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congenital heart defects
distinct facial features
hypotonia
intellectual disability
short stature
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gptkbp:treatment
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special education
supportive care
occupational therapy
physical therapy
speech therapy
early intervention programs
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gptkbp:bfsParent
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gptkb:DS
gptkb:De_La_Soul_–_Stakes_Is_High
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gptkbp:bfsLayer
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6
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