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| Predicate | Object |
|---|---|
| rdf:type | |
| calbc:hasCorrelation | |
| skos:definition |
JABL: Presence of an additional (third) chromosome in an otherwise diploid chromosome 14, associated with variable clinical manifestations consisting of growth and psychomotor delay, failure to thrive, minor facial abnormalities, cleft palate, congenital heart defect, body asymmetry, genital anomalies, and skin pigmentation.
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| skos:inScheme | |
| skos:broader | |
| skos-xl:prefLabel | |
| skos-xl:altLabel | |
| umls:relation |
http://linkedlifedata.com/resource/umls/relation/R01048357,
http://linkedlifedata.com/resource/umls/relation/R01048358,
http://linkedlifedata.com/resource/umls/relation/R01048359,
http://linkedlifedata.com/resource/umls/relation/R01048360,
http://linkedlifedata.com/resource/umls/relation/R128714268,
http://linkedlifedata.com/resource/umls/relation/R128714269,
http://linkedlifedata.com/resource/umls/relation/R120169566
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