Term Name: glycogen storage disease III
Synonyms: amylo 1,6 glucosidase deficiency, deficiency of debranching enzyme, deficiency of dextrin, Glycogen storage disease 3, Glycogen storage disease, type III
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.
Ontology: Human Disease [DOID:2748]   ( DOID:2748 )

Relationships
is a type of: autosomal recessive disease glycogen storage disease