49,XXXXX syndrome

Source:http://linkedlifedata.com/resource/umls/id/C0265497

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Predicate	Object
rdf:type	umls-semnetwork:T047, skos:Concept
calbc:hasCorrelation	calbc-group:ANAT, calbc-group:DISO
skos:definition	JABL: Presence of five X chromosomes (49,XXXXX) associated with short stature, delayed psychomotor development, characteristic facies with upslanting palpebral fissures, micromelia with radioulnar synostosis, and other abnormalities.,NCI: A rare sex chromosome abnormality in which a female child has 3 extra X chromosomes.
skos:inScheme	lld:umls
skos:broader	umls-concept:C0036868, umls-concept:C0949683
skos-xl:prefLabel	umls-label:A18475554
skos-xl:altLabel	umls-label:A0591513, umls-label:A1702235, umls-label:A1703331, umls-label:A1703337, umls-label:A1704489, umls-label:A1704490, umls-label:A1704526, umls-label:A18455059, umls-label:A18461269, umls-label:A18464262, umls-label:A18464263, umls-label:A18598964, umls-label:A18617566, umls-label:A18691759, umls-label:A19023195, umls-label:A19027521, umls-label:A19044846
umls:relation	http://linkedlifedata.com/resource/umls/relation/R01049210, http://linkedlifedata.com/resource/umls/relation/R01049211, http://linkedlifedata.com/resource/umls/relation/R119517061, http://linkedlifedata.com/resource/umls/relation/R128713955, http://linkedlifedata.com/resource/umls/relation/R128713956, http://linkedlifedata.com/resource/umls/relation/R128713957, http://linkedlifedata.com/resource/umls/relation/R128713958, http://linkedlifedata.com/resource/umls/relation/R124716828, http://linkedlifedata.com/resource/umls/relation/R31836390, http://linkedlifedata.com/resource/umls/relation/R121407098