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:0050177 | monogenic disease | A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive. |
