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Predicate | Object |
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rdf:type | |
calbc:hasCorrelation | |
skos:definition |
JABL: Duplication of the short arm of chromosome 3 with severe delay in mental development, craniofacial dysmorphism, urogenital maldevelopment, and various occasional anomalies, including cardiac defects, cleft lip and palate, holoprosencephaly, dermatoglyphic findings, and other malformations.
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skos:inScheme | |
skos:broader | |
skos-xl:prefLabel | |
skos-xl:altLabel | |
umls:relation |
http://linkedlifedata.com/resource/umls/relation/R01048568,
http://linkedlifedata.com/resource/umls/relation/R01048569,
http://linkedlifedata.com/resource/umls/relation/R128717142,
http://linkedlifedata.com/resource/umls/relation/R128717143,
http://linkedlifedata.com/resource/umls/relation/R03246968
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