glycogen storage disease Ic

Term ID

DOID:0081331

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. https://pubmed.ncbi.nlm.nih.gov/10598822/

References

• OMIM:232240

Ontology

Human Disease   ( DOID:0081331 )