Term Name: | hepatic venoocclusive disease with immunodeficiency |
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Synonyms: | hepatic veno-occlusive disease-immunodeficiency syndrome, VODI |
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. |
Ontology: | Human Disease [DOID:0112254] ( DOID:0112254 ) |