Search Ontology:
Human Disease

glycogen storage disease III

Term ID
DOID:2748
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. https://pubmed.ncbi.nlm.nih.gov/17047887/
References
Ontology
Human Disease   ( DOID:2748 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models