Disease association ontology term - MONDO:0007617 - Coffin-Siris syndrome 1

Term summary

ID

MONDO:0007617

Name

Coffin-Siris syndrome 1

Ontology or CV name

Disease association

Definition

Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1B gene.

Parents

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

Annotation