Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alsoKnownAs |
gptkb:Down_syndrome
|
| gptkbp:associatedWith |
increased risk of leukemia
increased risk of Alzheimer’s disease |
| gptkbp:cause |
presence of an extra copy of 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
|
| gptkbp:geneticMechanism |
gptkb:Robertsonian_translocation
mosaicism nondisjunction |
| gptkbp:hasHumanPhenotypeOntologyID |
HP:0000439
|
| 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:OMIM |
190685
|
| gptkbp:prevalence |
about 1 in 700 live births
|
| gptkbp:riskFactor |
advanced maternal age
|
| gptkbp:symptom |
congenital heart defects
distinct facial features hypotonia intellectual disability |
| gptkbp:treatment |
special education
supportive care early intervention programs |
| gptkbp:bfsParent |
gptkb:Verifi_Prenatal_Test
gptkb:Trisomy_18 |
| gptkbp:bfsLayer |
7
|