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Predicate | Object |
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rdf:type | |
calbc:hasCorrelation | |
skos:definition |
JABL: Duplication of the short arm of chromosome 9 with psychomotor retardation, hypertelorism, deep-set eyes, downslanting palpebral fissures, large nose, short upper lip, down-curved corners of the mouth, cup-shaped ears, kyphoscoliosis, small hands and feet, characteristic dermatoglyphic patterns, and cryptorchidism.
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skos:inScheme | |
skos:broader | |
skos-xl:prefLabel | |
skos-xl:altLabel | |
umls:relation |
http://linkedlifedata.com/resource/umls/relation/R01048658,
http://linkedlifedata.com/resource/umls/relation/R01048659,
http://linkedlifedata.com/resource/umls/relation/R128719740,
http://linkedlifedata.com/resource/umls/relation/R128719741,
http://linkedlifedata.com/resource/umls/relation/R03283782
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