glycogen storage disease III

Summary

DOID:2748 - glycogen storage disease III

Disease Ontology Definition:A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21.

Synonyms: amylo 1,6 glucosidase deficiency, deficiency of debranching enzyme, deficiency of dextrin, Glycogen storage disease 3, Glycogen storage disease, type III, Glycogen storage disease, type III (disorder)

Xenbase 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

: agl

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009291 - glycogen storage disease III

MONDO:0009291 - glycogen storage disease III

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)