PLOS Thesaurus

Last uploaded: September 21, 2017

Id	http://localhost/plosthes.2017-1#1540489 http://localhost/plosthes.2017-1#1540489
Preferred Name	Williams-Beuren syndrome
Type	http://www.w3.org/2004/02/skos/core#Concept

prefLabel	Williams-Beuren syndrome
homepage	http://journals.plos.org/plosone/browse/williams-beuren_syndrome
type	http://www.w3.org/2004/02/skos/core#Concept http://www.w3.org/2002/07/owl#NamedIndividual
Previous_Classification	10.260.70.40.40^Williams-Beuren syndrome\|60.50.60.10.100^Williams-Beuren syndrome\|60.280.230.40^Williams-Beuren syndrome
alpha	Williams-Beuren syndrome
scopeNote	A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy. Unique ID: D018980 https://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&term=D018980 RD
broader	http://localhost/plosthes.2017-1#4222 http://localhost/plosthes.2017-1#2172
status	Accepted
Synonym	http://localhost/plosthes.2017-1#T0

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