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rdf:type | |
calbc:hasCorrelation | |
skos:definition |
JABL: A syndrome in which both ends of chromosome 6 have been lost (deletion) and the two broken ends have reunited to form a ring-shaped figure. Intrauterine and postnatal growth retardation, mental retardation, and facial and ocular abnormalities are the most frequent manifestations.
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skos:inScheme | |
skos:broader | |
skos-xl:prefLabel | |
skos-xl:altLabel | |
umls:relation |
http://linkedlifedata.com/resource/umls/relation/R01048603,
http://linkedlifedata.com/resource/umls/relation/R01048604,
http://linkedlifedata.com/resource/umls/relation/R119517134,
http://linkedlifedata.com/resource/umls/relation/R128719192,
http://linkedlifedata.com/resource/umls/relation/R128719190,
http://linkedlifedata.com/resource/umls/relation/R128719191
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