WormBase Tree Display for DO_term: DOID:0112254
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| DOID:0112254 | Name | hepatic venoocclusive disease with immunodeficiency | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A syndrome characterized by severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells, hepatic vascular occlusion, and fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in the SP110 gene on chromosome 2q37.1. | ||||
| Synonym | Exact | VODI | |||
| hepatic veno-occlusive disease-immunodeficiency syndrome | |||||
| Parent | Is_a | DOID:225 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 235550 |
