| Disease ID | Source | Name | Description |
| 222470 | OMIM | Trichohepatoenteric syndrome 1 (THES1) | A syndrome characterized by intrauterine growth retardation, severe diarrhea in infancy requiring total parenteral nutrition, facial dysmorphism, immunodeficiency, and hair abnormalities, mostly trichorrhexis nodosa. Hepatic involvement contributes to the poor prognosis of affected patients. The disease is caused by variants affecting the gene represented in this entry. |