Statements (43)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alsoKnownAs |
gptkb:Down_syndrome
|
| gptkbp:associatedWith |
increased risk of Alzheimer disease
increased risk of leukemia thyroid disorders vision problems hearing loss sleep apnea gastrointestinal anomalies |
| gptkbp:cause |
presence of extra chromosome 21
|
| gptkbp:chromosomeAffected |
chromosome 21
|
| gptkbp:diagnosedBy |
karyotype analysis
prenatal screening |
| gptkbp:firstDescribed |
gptkb:John_Langdon_Down
1866 |
| gptkbp:frequency |
most common chromosomal abnormality in humans
about 6 million people worldwide |
| gptkbp:frequencyBySex |
affects both males and females equally
|
| gptkbp:geneticMechanism |
nondisjunction during meiosis
|
| gptkbp:hasAwarenessDay |
gptkb:March_21_(World_Down_Syndrome_Day)
|
| https://www.w3.org/2000/01/rdf-schema#label |
trisomy 21
|
| gptkbp:ICD-10_code |
gptkb:Q90
|
| gptkbp:inheritance |
usually not inherited
|
| gptkbp:lifeExpectancy |
about 60 years (varies)
|
| gptkbp:MeSH_ID |
gptkb:D004314
|
| gptkbp:namedAfter |
gptkb:John_Langdon_Down
|
| gptkbp:OMIM |
190685
|
| gptkbp:prevalence |
about 1 in 700 live births
|
| gptkbp:riskFactor |
advanced maternal age
|
| gptkbp:subspecies |
gptkb:mosaic_Down_syndrome
gptkb:standard_trisomy_21 gptkb:translocation_Down_syndrome |
| gptkbp:symbol |
47,XX,+21 or 47,XY,+21
|
| gptkbp:symptom |
congenital heart defects
distinct facial features hypotonia intellectual disability |
| gptkbp:treatment |
special education
supportive care early intervention programs medical management of complications |
| gptkbp:bfsParent |
gptkb:Down_syndrome
|
| gptkbp:bfsLayer |
5
|