Hischsprung disease-microcephaly-mental retardation-characteristic facies syndrome

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Predicate	Object
rdf:type	umls-semnetwork:T047, skos:Concept
calbc:hasCorrelation	calbc-group:DISO, calbc-group:PHYS
skos:definition	JABL: Hirschsprung disease (megacolon due to agangliosis) associated with microcephaly, mental retardation, short stature, and facial dysmorphism.
skos:inScheme	lld:umls
skos-xl:prefLabel	umls-label:A1703277
umls:relation	http://linkedlifedata.com/resource/umls/relation/R01049171, http://linkedlifedata.com/resource/umls/relation/R129129531, http://linkedlifedata.com/resource/umls/relation/R01049173, http://linkedlifedata.com/resource/umls/relation/R01049174