Disease association ontology term - MONDO:0013256 - chromosome 15q24 deletion syndrome

Term summary

ID

MONDO:0013256

Name

chromosome 15q24 deletion syndrome

Ontology or CV name

Disease association

Definition

15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.

Parents

• excluded_subClassOf syndromic intellectual disability
• is_a hereditary disease
• is_a multiple congenital anomalies/dysmorphic syndrome-intellectual disability
• is_a partial deletion of the long arm of chromosome 15

Annotation