Disease ID | Source | Name | Description |
235550 | OMIM | Hepatic venoocclusive disease with immunodeficiency (VODI) | Autosomal recessive primary immunodeficiency associated with hepatic vascular occlusion and fibrosis. The immunodeficiency is characterized by severe hypogammaglobulinemia, combined T and B-cell immunodeficiency, absent lymph node germinal centers, and absent tissue plasma cells. The disease is caused by variants affecting the gene represented in this entry. |