About   Help   FAQ
Disease Ontology Browser
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.

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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory