Disease association ontology term - MONDO:0009623 - Nijmegen breakage syndrome

Term summary

ID

MONDO:0009623

Name

Nijmegen breakage syndrome

Ontology or CV name

Disease association

Definition

Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

Parents

• is_a autosomal recessive disease
• is_a multiple congenital anomalies/dysmorphic syndrome without intellectual disability
• is_a developmental anomaly of metabolic origin
• is_a DNA repair disease

Annotation