| Dataset | OMIM Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation. (Human Disease Ontology, DOID_2754) |
| External Link | http://www.omim.org/entry/232700 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the glycogen storage disease vi phenotype from the curated OMIM Gene-Disease Associations dataset.
| Symbol | Name |
|---|---|
| PYGL | phosphorylase, glycogen, liver |
