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glycogen storage disease IV (DOID:2750)
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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
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.

Disease References using Mouse Models (3)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory