Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
DOID:2750 - glycogen storage disease IV

Disease Ontology 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.

Synonyms: Amylopectinosis, Branching-transferase deficiency glycogenosis, Branching-transferase deficiency glycogenosis (disorder), Glycogen storage disease 4, Glycogen storage disease, type IV, Glycogen storage disease, type IV (disorder), brancher deficiency glycogenosis, deficiency of 1,4-alpha-glucan branching enzyme,

Xenbase Genes : gbe1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009292 - glycogen storage disease due to glycogen branching enzyme deficiency


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), glycogen storage disease (is_a)