Visualize Submit Comment
Metadata
ID DOID:2748
Name glycogen storage disease 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/
Xrefs

ICD10CM:E74.03

MESH:D006010

MIM:232400

NCI:C84736

SNOMEDCT_US_2023_03_01:66937008

UMLS_CUI:C0017922

Subsets

NCIthesaurus

Synonyms

amylo 1,6 glucosidase deficiency [EXACT]

deficiency of debranching enzyme [EXACT]

deficiency of dextrin [EXACT]

Glycogen storage disease 3 [EXACT]

Glycogen storage disease, type III [EXACT]

Parent Relationships

is_a glycogen storage disease

is_a autosomal recessive disease

Add an item to the term tracker