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Williams syndrome

Disease Summary
Associated Targets (29)
Tbio

23

Tchem

3

Tdark

3


GARD Rare
Mondo Description Williams syndrome is 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)
Mondo Term and Equivalent IDs
MONDO:0008678:  Williams syndrome
GARD:0007891: 
MESH:D018980: 
NCIT:C85232: 
Orphanet:904: 
SCTID:63247009: 
UMLS:C0175702: