DISEASES

Disease-gene associations mined from literature

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