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Predicate | Object |
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rdf:type | |
calbc:hasCorrelation | |
skos:definition |
JABL: Duplication of the long arm of chromosome 18 with variable abnormalities, including intra-uterine growth retardation; characteristic facies with malformed ears, micrognathia, and prominent occiput; heart malformations; and psychomotor retardation.
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skos:inScheme | |
skos:broader | |
skos-xl:prefLabel | |
skos-xl:altLabel | |
umls:relation |
http://linkedlifedata.com/resource/umls/relation/R01048426,
http://linkedlifedata.com/resource/umls/relation/R01048427,
http://linkedlifedata.com/resource/umls/relation/R128720280,
http://linkedlifedata.com/resource/umls/relation/R128720281,
http://linkedlifedata.com/resource/umls/relation/R03252383
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