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Metadata
ID DOID:0061271
PURL http://purl.obolibrary.org/obo/DOID_0061271 Copy
Name liver glycogen storage disease
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/
Xrefs

MIM:240600

Parent Relationships

is_a autosomal recessive disease

is_a glycogen storage disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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