glycogen storage disease IV (DOID:2750)
Alliance: disease page
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
Alt IDs: OMIM:232500, ICD10CM:E74.09, MESH:D006011, NCI:C84737, UMLS_CUI:C0017923
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.