| Disease ID | Source | Name | Description |
| 243800 | OMIM | Johanson-Blizzard syndrome (JBS) | This disorder includes congenital exocrine pancreatic insufficiency, multiple malformations such as nasal wing aplasia, and frequent mental retardation. Pancreas of individuals with JBS do not express UBR1 and show intrauterine-onset destructive pancreatitis. The disease is caused by variants affecting the gene represented in this entry. |