| 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 |
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 | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |