Disease ID | Source | Name | Description |
276600 | OMIM | Tyrosinemia 2 (TYRSN2) | An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, and oculocutaneous manifestations. Typical features include palmoplantar keratosis, painful corneal ulcers, and mental retardation. The disease is caused by variants affecting the gene represented in this entry. |