OBO ID: DOID:0112254 |
Term Name: | hepatic venoocclusive disease with immunodeficiency | Search Ontology: | |
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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. (2) | ||
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Ontology: | Human Disease ( DOID:0112254 ) |
OTHER hepatic venoocclusive disease with immunodeficiency PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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