OBO ID: DOID:2748
Term Name: glycogen storage disease III Search Ontology:
Synonyms:
  • amylo 1,6 glucosidase deficiency
  • deficiency of debranching enzyme
  • deficiency of dextrin
  • 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)
OTHER glycogen storage disease III PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
AGL Glycogen storage disease IIIb 232400
Glycogen storage disease IIIa 232400
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None