| Disease ID | Source | Name | Description |
| 261750 | OMIM | Glycogen storage disease 9B (GSD9B) | A metabolic disorder characterized by hepatomegaly, only slightly elevated transaminases and plasma lipids, clinical improvement with increasing age, and remarkably no clinical muscle involvement. Biochemical observations suggest that this mild phenotype is caused by an incomplete holoenzyme that lacks the beta subunit, but that may possess residual activity. The disease is caused by variants affecting the gene represented in this entry. |