Metadata | |
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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 |
SNOMEDCT_US_2023_03_01:66937008 |
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 |