glycogen storage disease IV

Summary

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

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: gbe1

MIM:

MIM:232500 - glycogen storage disease iv; gsd4

MIM:232500 - glycogen storage disease iv; gsd4

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)