OBO ID: DOID:2748 |
Term Name: | glycogen storage disease III | Search Ontology: | |
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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/ | ||
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Ontology: | Human Disease ( DOID:2748 ) |
OTHER glycogen storage disease III PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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