FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term glycogen storage disease Ic ID (Ontology) DOID:0081331 (Human Disease)
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.
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 Genes
 glycogen storage disease Ic       1
 for disease ribbon | glycogen storage disease Ic       1
 model of | glycogen storage disease Ic       1
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autosomal genetic disease
 |__autosomal recessive disease__
glycogen storage disease         |
 |__glycogen storage disease I___|
                                 glycogen storage disease Ic  1 rec.
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Is a autosomal recessive disease
glycogen storage disease I
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MIM:232240