Disease association ontology term - MONDO:0012637 - COG1-congenital disorder of glycosylation

Term summary

ID

MONDO:0012637

Name

COG1-congenital disorder of glycosylation

Ontology or CV name

Disease association

Definition

COG1-CDG is an extremely rare form of CDG syndrome characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.

Parents

• is_a syndromic disease
• is_a congenital disorder of glycosylation type II
• is_a developmental anomaly of metabolic origin
• is_a defect in conserved oligomeric Golgi complex
• is_a cardiogenetic disease

Annotation