Term Name: hepatic venoocclusive disease with immunodeficiency
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 )

Relationships
is a type of: autosomal recessive disease syndrome