| Disease ID | Source | Name | Description |
| 610293 | OMIM | Glycosylphosphatidylinositol biosynthesis defect 1 (GPIBD1) | An autosomal recessive disorder characterized by portal vein thrombosis and portal hypertension, absence seizures, macrocephaly, splenomegaly, cytopenias and early-onset cerebral infarctions. The disease is caused by variants affecting the gene represented in this entry. |