disease has feature Supravalvular aortic stenosis syndromic intellectual disability syndromic disease heart disorder supravalvular aortic stenosis Williams syndrome https://github.com/monarch-initiative/mondo/issues/3680 https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/9097 https://github.com/monarch-initiative/mondo/issues/9285 https://www.malacards.org/card/williams_beuren_syndrome WBS MONDO:0008678 MedDRA:10049644 Orphanet:904 NANDO:2200286 MEDGEN:59799 DOID:1928 DECIPHER:3 A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity) chromosome 7Q11.23 deletion syndrome, 1.5- to 1.8-Mb NORD:1854 MESH:D018980 monosomy 7q11.23 SCTID:63247009 deletion 7q11.23 Williams syndrome ICD10CM:Q93.82 ICD9:759.89 UMLS:C0175702 GARD:0007891 Williams-Beuren syndrome (WBS) NCIT:C85232 OMIM:194050 NANDO:1200664 WMS Williams-Beuren syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability partial deletion of the long arm of chromosome 7 obsolete motor stereotypies obsolete syndromic epicanthus neurodevelopmental disorder