Disease association ontology term - MONDO:0016033 - Cornelia de Lange syndrome

Term summary

ID

MONDO:0016033

Name

Cornelia de Lange syndrome

Ontology or CV name

Disease association

Definition

A rare syndrome characterized by low birth weight, delayed growth, intellectual disabillity, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes.

Parents

• excluded_subClassOf syndromic intellectual disability
• excluded_subClassOf obsolete syndromic diaphragmatic or abdominal wall malformation (obsolete MONDO:0015216)
• excluded_subClassOf dysostosis
• excluded_subClassOf obsolete rare disorder with ptosis (obsolete MONDO:0020169)
• excluded_subClassOf obsolete syndrome with a symptomatic strabismus (obsolete MONDO:0020253)
• is_a syndromic disease
• is_a hereditary disease
• is_a multiple congenital anomalies/dysmorphic syndrome-intellectual disability
• is_a congenital limb malformation

Annotation