Disease association ontology term - MONDO:0013821 - intellectual disability, autosomal dominant 16

Term summary

ID

MONDO:0013821

Name

intellectual disability, autosomal dominant 16

Ontology or CV name

Disease association

Definition

Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCA4 gene.

Parents

• excluded_subClassOf autosomal dominant non-syndromic intellectual disability
• is_a autosomal dominant disease
• is_a Coffin-Siris syndrome
• is_a BAFopathy

Annotation