Disease ID | Source | Name | Description |
215600 | OMIM | Cirrhosis (CIRRH) | A liver disease characterized by severe panlobular liver-cell swelling with Mallory body formation, prominent pericellular fibrosis, and marked deposits of copper. Clinical features include abdomen swelling, jaundice and pulmonary hypertension. The disease is caused by variants affecting the gene represented in this entry. |