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| Term | hepatic venoocclusive disease with immunodeficiency | ID (Ontology) | DOID:0112254 (Human Disease) |
| 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. | ||
| Also Known As | "hepatic veno-occlusive disease-immunodeficiency syndrome" ; "VODI" | ||
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autosomal genetic disease |__autosomal recessive disease__ disease | |__syndrome_____________________| hepatic venoocclusive disease with immunodeficiency |
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| Is a |
autosomal recessive disease syndrome |
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GARD:10083 MESH:C537257 MIM:235550 ORDO:79124 |
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