Disease association ontology term - MONDO:0016006 - Cockayne syndrome

Term summary

ID

MONDO:0016006

Name

Cockayne syndrome

Ontology or CV name

Disease association

Definition

A multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.

Parents

• excluded_subClassOf syndromic intellectual disability
• excluded_subClassOf hereditary photodermatosis
• excluded_subClassOf obsolete syndromic genetic hearing loss (obsolete MONDO:0019589)
• excluded_subClassOf obsolete syndromic retinitis pigmentosa (obsolete MONDO:0020240)
• excluded_subClassOf inherited neurodegenerative disorder
• is_a autosomal recessive disease
• is_a developmental anomaly of metabolic origin
• is_a progeroid syndrome
• is_a DNA repair disease

Annotation