Disease association ontology term - MONDO:0002412 - disorder of glycogen metabolism

Term summary

ID

MONDO:0002412

Name

disorder of glycogen metabolism

Ontology or CV name

Disease association

Definition

An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues.

Parents

• excluded_subClassOf obsolete inborn glycogen metabolism disorder (obsolete MONDO:0000422)
• is_a inborn carbohydrate metabolic disorder
• is_a inborn disorder of energy metabolism

Annotation