Biomaterial Database

Williams-Beuren syndrome. 2010

Barbara R Pober

Center for Human Genetics, Massachusetts General Hospital, Boston, MA 02114, USA. pober.barbara@mgh.harvard.edu

UI	MeSH Term	Description	Entries
D003920	Diabetes Mellitus	A heterogeneous group of disorders characterized by HYPERGLYCEMIA and GLUCOSE INTOLERANCE.
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015	Abnormalities, Multiple	Congenital abnormalities that affect more than one organ or body structure.	Multiple Abnormalities
D017384	Sequence Deletion	Deletion of sequences of nucleic acids from the genetic material of an individual.	Deletion Mutation,Deletion Mutations,Deletion, Sequence,Deletions, Sequence,Mutation, Deletion,Mutations, Deletion,Sequence Deletions
D018980	Williams Syndrome	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.	Contiguous Gene Syndrome, Williams,Beuren Syndrome,Chromosome 7q11.23 Deletion Syndrome,Hypercalcemia-Supravalvar Aortic Stenosis,Supravalvar Aortic Stenosis Syndrome,Williams Contiguous Gene Syndrome,Williams-Beuren Syndrome,Aortic Stenoses, Hypercalcemia-Supravalvar,Aortic Stenosis, Hypercalcemia-Supravalvar,Hypercalcemia Supravalvar Aortic Stenosis,Hypercalcemia-Supravalvar Aortic Stenoses,Stenoses, Hypercalcemia-Supravalvar Aortic,Stenosis, Hypercalcemia-Supravalvar Aortic,Syndrome, Beuren,Syndrome, Williams,Syndrome, Williams-Beuren,Williams Beuren Syndrome
D021921	Aortic Stenosis, Supravalvular	A pathological constriction occurring in the region above the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA.	Supravalvular Aortic Stenosis,Aortic Supravalvular Stenosis,Stenosis, Aortic Supravalvular,Stenosis, Supravalvular Aortic,Supravalvar Aortic Stenosis,Supravalvular Stenosis, Aortic,Aortic Supravalvular Stenoses,Stenoses, Aortic Supravalvular,Supravalvular Stenoses, Aortic