glycogen storage disease Ib

Term ID

DOID:0081330

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. https://pubmed.ncbi.nlm.nih.gov/31536830/

References

• OMIM:232220

Ontology

Human Disease   ( DOID:0081330 )