Disease association ontology term - MONDO:0015452 - Coffin-Siris syndrome

Term summary

ID

MONDO:0015452

Name

Coffin-Siris syndrome

Ontology or CV name

Disease association

Definition

Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations.

Parents

• excluded_subClassOf syndromic intellectual disability
• excluded_subClassOf congenital limb malformation
• is_a syndromic disease
• is_a hereditary disease
• is_a skeletal system disorder
• is_a multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Annotation