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glycogen storage disease due to phosphorylase kinase deficiency

Disease Summary
Associated Targets (4)
Tbio

3

Tchem

1


Mondo Description Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency.
Mondo Term and Equivalent IDs
MONDO:0018251:  glycogen storage disease due to phosphorylase kinase deficiency
MESH:C580130: 
NCIT:C122662: 
Orphanet:370: 
SCTID:235908005: 
SCTID:40191005: 
UMLS:C0268147: