1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:2748 | glycogen storage disease III | 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. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:655 | inherited metabolic disorder | A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality. |
