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Metadata
ID DOID:0081330
Name glycogen storage disease Ib
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/
Xrefs

MIM:232220

Parent Relationships

is_a glycogen storage disease I

is_a autosomal recessive disease

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