Term Name: | glycogen storage disease IV |
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Synonyms: | Amylopectinosis, brancher deficiency glycogenosis, Branching-transferase deficiency glycogenosis, deficiency of 1,4-alpha-glucan branching enzyme, Glycogen storage disease 4, Glycogen storage disease, type IV |
Definition: | A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the GBE1 gene, which encodes the glycogen branching enzyme, on chromosome 3p12. |
Ontology: | Human Disease [DOID:2750] ( DOID:2750 ) |