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| Predicate | Object |
|---|---|
| rdf:type | |
| calbc:hasCorrelation | |
| skos:definition |
JABL: Deletion of the short arm of chromosome 1. Common symptoms include mental deficiency, malformed ears, short neck, bulbous nose, heart defects, finger abnormalities, and small deeply set eyes but the phenotype varies with the breakpoint.
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| skos:inScheme | |
| skos-xl:prefLabel | |
| skos-xl:altLabel | |
| umls:relation |
http://linkedlifedata.com/resource/umls/relation/R01048436,
http://linkedlifedata.com/resource/umls/relation/R01048437,
http://linkedlifedata.com/resource/umls/relation/R128714478,
http://linkedlifedata.com/resource/umls/relation/R128714479,
http://linkedlifedata.com/resource/umls/relation/R03246930
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