Search Ontology:
Human Disease
glycogen storage disease III
- Term ID
- DOID:2748
- Synonyms
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- amylo 1,6 glucosidase deficiency
- deficiency of debranching enzyme
- deficiency of dextrin
- 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/
- References
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- ICD10CM:E74.03
- MESH:D006010
- MIM:232400
- Ontology
- Human Disease ( DOID:2748 )
- is a type of
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Genes Involved
Zebrafish Models