deafness-femoral epiphyseal dysplasia-short stature-developmental delay syndrome

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Predicate	Object
rdf:type	umls-semnetwork:T047, skos:Concept
calbc:hasCorrelation	calbc-group:ANAT, calbc-group:DISO
skos:definition	JABL: A syndrome of developmental delay, sensorineural deafness, Perthes-like asymmetrical capital femoral dysplasia, short stature, umbilical and inguinal hernias, blocked lacrimal ducts, mild epiphyseal dysplasia, and retarded bone age.
skos:inScheme	lld:umls
skos-xl:prefLabel	umls-label:A1703523
umls:relation	http://linkedlifedata.com/resource/umls/relation/R01046079, http://linkedlifedata.com/resource/umls/relation/R01049305, http://linkedlifedata.com/resource/umls/relation/R01049306