liver glycogen storage disease

Term ID

DOID:0061271

Synonyms

Definition

A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the GYS2 gene which encodes glycogen synthase-2, on chromosome 12p12. https://pubmed.ncbi.nlm.nih.gov/21032403/

References

• MIM:240600

Ontology

Human Disease   ( DOID:0061271 )