Term Name: | glycogen storage disease III |
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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 ) |