Disease association ontology term - MONDO:0009026 - Costello syndrome

Term summary

ID

MONDO:0009026

Name

Costello syndrome

Ontology or CV name

Disease association

Definition

Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

Parents

• excluded_subClassOf syndromic intellectual disability
• excluded_subClassOf obsolete dermis elastic tissue disorder (obsolete MONDO:0019292)
• is_a autosomal dominant disease
• is_a multiple congenital anomalies/dysmorphic syndrome-intellectual disability
• is_a Noonan syndrome and Noonan-related syndrome

Annotation