Disease association ontology term - MONDO:0016512 - Kabuki syndrome

Term summary

ID

MONDO:0016512

Name

Kabuki syndrome

Ontology or CV name

Disease association

Definition

Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.

Parents

• excluded_subClassOf syndromic intellectual disability
• excluded_subClassOf obsolete syndromic diaphragmatic or abdominal wall malformation (obsolete MONDO:0015216)
• excluded_subClassOf obsolete syndromic anorectal malformation (obsolete MONDO:0015246)
• excluded_subClassOf congenital entropion
• excluded_subClassOf congenital ectropion
• is_a syndromic disease
• is_a hereditary disease
• is_a multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Annotation