Disease association ontology term - MONDO:0013820 - intellectual disability, autosomal dominant 15

Term summary

ID

MONDO:0013820

Name

intellectual disability, autosomal dominant 15

Ontology or CV name

Disease association

Definition

Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCB1 gene.

Parents

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

Annotation