Term Name: glycogen storage disease Ic
Synonyms:
Definition: A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. G6PT1 is also the site of the defect in glycogen storage disease Ib.
Ontology: Human Disease [DOID:0081331]   ( DOID:0081331 )

Relationships
is a type of: autosomal recessive disease glycogen storage disease I