Human genes for glycogen storage disease VII
Glycogen storage disease VII [DOID:11721]
A glycogen storage disease that is characterized by mild to moderate hypoglycemia, mild ketosis, growth retardation, and prominent hepatomegaly and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGL gene, which encodes liver glycogen phosphorylase, on chromosome 14q22.
Synonyms: glycogen storage disease VII, DOID:11721, glycogen storage disease VIIs, glycogen storage disease type VII, Glycogen storage disease, type VII ...
Linkouts: OMIM