hepatic venoocclusive disease with immunodeficiency (DOID:0112254)
Alliance: disease page
Synonyms: hepatic veno-occlusive disease-immunodeficiency syndrome; VODI
Alt IDs: OMIM:235550, MESH:C537257, ORDO:79124
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.