ptosis-downslanting palpebral fissures-hypertelorism-seizures-mental retardation syndrome

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Statements in which the resource exists as a subject.
Predicate	Object
rdf:type	umls-semnetwork:T047, skos:Concept
calbc:hasCorrelation	calbc-group:DISO
skos:definition	JABL: Microcephaly, hypertelorism, downslanting palpebral fissures, blepharoptosis, broad nasal tip, short webbed neck, and mental retardation.
skos:inScheme	lld:umls
skos-xl:prefLabel	umls-label:A1703719
umls:relation	http://linkedlifedata.com/resource/umls/relation/R01049381, http://linkedlifedata.com/resource/umls/relation/R01049382