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Predicate | Object |
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rdf:type | |
calbc:hasCorrelation | |
skos:definition |
JABL: Duplication of the short arm of chromosome 10 with a variable phenotype depending on the size of the trisomic segment. Growth and mental retardation, craniofacial dysmorphism, and ocular, cardiovascular, skeletal, and other abnormalities are associated.
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skos:inScheme | |
skos:broader | |
skos-xl:prefLabel | |
skos-xl:altLabel | |
umls:relation |
http://linkedlifedata.com/resource/umls/relation/R01048301,
http://linkedlifedata.com/resource/umls/relation/R01048302,
http://linkedlifedata.com/resource/umls/relation/R01048303,
http://linkedlifedata.com/resource/umls/relation/R129129731,
http://linkedlifedata.com/resource/umls/relation/R01048305,
http://linkedlifedata.com/resource/umls/relation/R128720242,
http://linkedlifedata.com/resource/umls/relation/R128720243,
http://linkedlifedata.com/resource/umls/relation/R03247005
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