Term Name: | glycogen storage disease Ib |
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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. |
Ontology: | Human Disease [DOID:0081330] ( DOID:0081330 ) |