Disease association ontology term - MONDO:0008678 - Williams syndrome
Term summary
- ID
- MONDO:0008678
- Name
- Williams syndrome
- Ontology or CV name
- Disease association
- Definition
- 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)
