|OBO ID: DOID:2748|
|Term Name:||glycogen storage disease III||Search 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. https://pubmed.ncbi.nlm.nih.gov/17047887/|
|Ontology:||Human Disease (DOID:2748)|
|is a type of:||
OTHER glycogen storage disease III PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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