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Disease Ontology Browser
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory