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Glycogen Storage Disease

^ http://purl.obolibrary.org/obo/NCIT_C61272


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. [ NCI ]

Synonyms: Glycogen Storage Disease

Term info

Subsets

NCIT_C99147, NCIT_C90259

Has NICHD Parent

http://purl.obolibrary.org/obo/NCIT_C34816

Legacy Concept Name

Glycogen_Storage_Disease

Maps To

Glycogen Storage Disease

NICHD Hierarchy Term

Glycogen Storage Disease

Preferred Name

Glycogen Storage Disease

Semantic Type

Disease or Syndrome

UMLS CUI

C0017919

code

C61272