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

Xenbase Genes : gbe1

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


Other Model Organisms: Alliance, 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)