Disease association ontology term - MONDO:0032702 - Coffin-Siris syndrome 8

Term summary

ID

MONDO:0032702

Name

Coffin-Siris syndrome 8

Ontology or CV name

Disease association

Definition

Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCC2 gene.

Parents

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

Annotation