Disease ID | Source | Name | Description |
614480 | OMIM | Hypertriglyceridemia, transient infantile (HTGTI) | An autosomal recessive disorder characterized by onset of moderate to severe transient hypertriglyceridemia in infancy that normalizes with age. The hypertriglyceridemia is associated with hepatomegaly, moderately elevated transaminases, persistent fatty liver, and the development of hepatic fibrosis. The disease is caused by variants affecting the gene represented in this entry. |