Disease association ontology term - MONDO:0018997 - Noonan syndrome

Term summary

ID

MONDO:0018997

Name

Noonan syndrome

Ontology or CV name

Disease association

Definition

Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphism and congenital heart defects.

Parents

• is_a syndromic disease
• is_a multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
• is_a lymphatic malformation
• is_a Noonan syndrome and Noonan-related syndrome

Annotation